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Unit 3: Genetics

Unit 3: Genetics. 1. Explain the significance of Mendel`s experiments and observations and the laws derived from them. a. Explain the concept of independent

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Page 1: Unit 3: Genetics. 1. Explain the significance of Mendel`s experiments and observations and the laws derived from them. a. Explain the concept of independent

Unit 3: Genetics

Page 2: Unit 3: Genetics. 1. Explain the significance of Mendel`s experiments and observations and the laws derived from them. a. Explain the concept of independent

1. Explain the significance of Mendel`s experiments and observations and the laws derived from them.a. Explain the concept of independent events.b. Understand that the probability of an independent event is not altered by the outcomes of previous events.

Page 3: Unit 3: Genetics. 1. Explain the significance of Mendel`s experiments and observations and the laws derived from them. a. Explain the concept of independent

Heredity

All organisms pass on their characteristics from generation to generation through INHERITANCE.

2 kinds of characteristics inherited:Species characteristics: each species always passes on their own traits.Individual Characteristics: even though we inherit things equally from both parents, offspring is always different from their parents because we are a combination of both parents (i.e. mother's hair colour, father's build, mother's nose, etc.)

Heredity is controlled by a chemical code in our DNA.

This genetic code is present in the chromosomes of the gametes (egg and sperm).

Page 4: Unit 3: Genetics. 1. Explain the significance of Mendel`s experiments and observations and the laws derived from them. a. Explain the concept of independent

Environment

Even though we inherit traits from our parents, our environment will affect the full potential of what we inherit.Example: Food: people in Canada are bigger and taller than 100 years agoExercise: stronger, healthier bodiesSunlight: lightens hair, darkens freckles

Independent Events

Another factor that will affect what we inherit are independent events.An event that takes place that no previous event has an effect on.Example: you broke your finger when you were six and it is now crooked. You will not pass this crooked finger on to any of your offspring, it is an independent event.

Page 5: Unit 3: Genetics. 1. Explain the significance of Mendel`s experiments and observations and the laws derived from them. a. Explain the concept of independent

Probability

In genetics, we use a mathematical process called probability. Probability is the chance that an event will occur (i.e. the chance that you will have curly hair or blue eyes).When determining probability, we do not consider items like the environment or independent events.

Page 6: Unit 3: Genetics. 1. Explain the significance of Mendel`s experiments and observations and the laws derived from them. a. Explain the concept of independent

In-Class Discussion

How does heredity affect you?What traits have you received that are NOT affected by the environment or independent events?What traits have you received that have been affected by the environment or independent events

Instructions:1. In groups of 2 or 3, discuss the 3 questions above, make a list of traits that have been inherited, and a list of traits that have been affected/altered.2. Look at the list of traits that your group has made and decide which ones are most common and which ones are not as common....decide what this might have to do with the terms "dominant" and "recessive".

Page 7: Unit 3: Genetics. 1. Explain the significance of Mendel`s experiments and observations and the laws derived from them. a. Explain the concept of independent

List of Traits: Dominant or Recessive:

Page 8: Unit 3: Genetics. 1. Explain the significance of Mendel`s experiments and observations and the laws derived from them. a. Explain the concept of independent

Dominant and Recessive Genes

Dominant Gene: determine the expression of the genetic trait in offspring. Dominant gene is given an upper case (capital) letter.

Recessive Gene: genes that are overruled by dominant genes. Recessive gene is designated by a lower case letter.

Other Examples:To determine some other examples of traits that are dominant or recessive, we will conduct a class survey.

http://www.uni.edu/walsh/genetics.html

Page 9: Unit 3: Genetics. 1. Explain the significance of Mendel`s experiments and observations and the laws derived from them. a. Explain the concept of independent

Review...1. What does the term "heredity" mean?

2. What is the difference between a dominant and a recessive trait? Provide an example of each.

Page 10: Unit 3: Genetics. 1. Explain the significance of Mendel`s experiments and observations and the laws derived from them. a. Explain the concept of independent

1. Explain the significance of Mendel`s experiments and observations and the laws derived from them.

c. Describe Mendel`s experiments and observations.d. Describe the relationship between genotype and phenotype.e. Use the concept of the gene to explain Mendel`s Laws.f. Describe the ideas of dominant and recessive traits with examples.h. Explain the law of segregation.

Page 11: Unit 3: Genetics. 1. Explain the significance of Mendel`s experiments and observations and the laws derived from them. a. Explain the concept of independent

GENETICS

GENETICS: the branch of biology that studies the ways in which hereditary information is passed on from parents to offspring.

GREGOR MENDEL: (1822-1884) first to study heredity (monk).studied pea plants (traits) and came up with some basic principles.Peas: easy to grow, mature quickly, show sharply contrasting traits (tall vs. short, yellow vs. green, wrinkled vs. smooth).Easy to cross pollinate for humans.Kept careful records.

Page 12: Unit 3: Genetics. 1. Explain the significance of Mendel`s experiments and observations and the laws derived from them. a. Explain the concept of independent

Mendel and His Experiments

Gregor Mendel:  Austrian monk 1822-1884 studied garden peas

Mendel studied peas and cross-fertilized them by hand. Peas had specific traits that he studied.

Crosses: Round seeds X Wrinkled (parents)

  Round Seeds (offspring)

 Tall plants X Short plants (parents)

  Tall Plants (offspring)

Yellow seed coats X Green seed coats (parents)

  Yellow seed coats (offspring)

Page 13: Unit 3: Genetics. 1. Explain the significance of Mendel`s experiments and observations and the laws derived from them. a. Explain the concept of independent

Mendel discovered that genes control the traits of a plant. Genes are located on chromosomes.

Mendel also discovered that some genes are dominant over others (recessive). Ex)  round seeds dominant over wrinkled seed tall plants dominant over short plants yellow seed coat dominant over green seed coats

Dominant Gene: determine the expression of the genetic trait in offspring. Dominant gene is given an upper case (capital) letter.

Recessive Gene: genes that are overruled by dominant genes. Recessive gene is designated by a lower case letter.

For each trait, an organism gets one gene form the mother and one gene from the father.

Page 14: Unit 3: Genetics. 1. Explain the significance of Mendel`s experiments and observations and the laws derived from them. a. Explain the concept of independent

Mendel's Laws of Heredity:

1. Inherited characteristics are controlled by genes. Genes happen in pairs. During fertilization 2 genes come together to form a pair.

2. Principle of Dominance one gene masks the effect of another. The gene for round seed coats masks the effect of the gene for wrinkled seed coats. Round is dominant over wrinkled.

3. Law of Segregation: Genes separate during the formation of sex cells. Organisms get one gene from each parent for a particular trait. During the formation of gametes (sex cells), alleles (form of a gene) separate randomly so that each gamete receives one or the other. The Law of Segregation deals with meiosis, which will be talked about later.

Page 15: Unit 3: Genetics. 1. Explain the significance of Mendel`s experiments and observations and the laws derived from them. a. Explain the concept of independent

Genotype: refers to the genes that an organism has for a particular trait. Ex) RR, Rr, rr; a round seed coat can have genotype RR or Rr, a wrinkled seed coat has only one genotype rr. YOU CAN'T TELL THE GENOTYPE BY JUST LOOKING AT AN ORGANISM

Phenotype: refers to the observable traits of an organism, the traits that you see, Ex) there are only 2 phenotype for seed coat, wrinkled and smooth.

Homozygous: an organism contains 2 genes for one trait that are the same, Ex) RR or rr : the organism is pure for the trait.

Heterozygous: an organism contains 2 genes for one trait that are different. Ex) Rr

Alleles: two or more alternate forms of a gene.Ex) Dominant

Recessiveseed coat alleles R (smooth) r (wrinkled)

Page 16: Unit 3: Genetics. 1. Explain the significance of Mendel`s experiments and observations and the laws derived from them. a. Explain the concept of independent

Review....1. List and explain one of the new terms learned last day.

2. What was one of Gregor Mendal's laws?

Page 17: Unit 3: Genetics. 1. Explain the significance of Mendel`s experiments and observations and the laws derived from them. a. Explain the concept of independent

1. Explain the significance of Mendel`s experiments and observations and the laws derived from them.

g. Consider the value of the punnett square by creating examples of mono and dihybrid crosses.

Page 18: Unit 3: Genetics. 1. Explain the significance of Mendel`s experiments and observations and the laws derived from them. a. Explain the concept of independent

Monohybrid Cross

Mono (one)Hybrid (result from crosses between parents that are genetically not alike)

Monohybrid Cross: a cross that involved one pair of contrasting genes for one trait. 

Page 19: Unit 3: Genetics. 1. Explain the significance of Mendel`s experiments and observations and the laws derived from them. a. Explain the concept of independent

Ex) Dealing with the trait of Seed Coat

Round seed coat X Wrinkled seed coat

(parent)

RR rr

Rr

Hybrid OffspringCrossed Again

X

Rr

(F1 generation)

Round Seed Coat

(F = filial)

(F2 generation)

RR Rr Rr rr

Page 20: Unit 3: Genetics. 1. Explain the significance of Mendel`s experiments and observations and the laws derived from them. a. Explain the concept of independent

Punnet Square for Monohybrid Cross

Punnet Square: chart used by geneticists to show the possible combinations of alleles in offspring.

Wrinkled Parent (homozygous)

Round Parent(homozygous)

r r

R

R

(F1 generation)

all _ Rr, heterozygous

Page 21: Unit 3: Genetics. 1. Explain the significance of Mendel`s experiments and observations and the laws derived from them. a. Explain the concept of independent

R r

R

r

Round Parent (heterozygous)

Round Parent(heterozygous)

(F2 generation)

_ RR homozygous dominant, _ Rr heterozygous and _ rr homozygous (recessive)

Page 22: Unit 3: Genetics. 1. Explain the significance of Mendel`s experiments and observations and the laws derived from them. a. Explain the concept of independent

Monohybrid Cross Genotypic Ratio

1 RR (homozygous dominant) : 2Rr (heterozygous) : 1rr (homozygous recessive)

Monohybrid Cross Phenotypic Ratio

3 round : 1 wrinkled

3 with the dominant trait showing : 1 with the recessive trait showing

3/4 or 75% : 1/4 or 25%

Page 23: Unit 3: Genetics. 1. Explain the significance of Mendel`s experiments and observations and the laws derived from them. a. Explain the concept of independent

Lets look at this in more detail.

RRX rr

(parents)

sex cellsr r

sex cellsR R

Rr (F1 generation) X Rr

sex cellsR r

(F2 generation)

RR Rr Rr rr

round wrinkled

Page 24: Unit 3: Genetics. 1. Explain the significance of Mendel`s experiments and observations and the laws derived from them. a. Explain the concept of independent

Examples:

1. Brown eyes (B) are dominant over blue eyes. If a parent homozygous for blue eyes produce offspring. What are the chances that the offspring has brown eyes? blue eyes?

Parent A = BBParent B = bb

Page 25: Unit 3: Genetics. 1. Explain the significance of Mendel`s experiments and observations and the laws derived from them. a. Explain the concept of independent

2. In plants, tall (T) is dominant over short (t). Two plants, that are tall, are crossed and produce a plant that is short. Determine the genotype of the parents.

short plant = tt

Page 26: Unit 3: Genetics. 1. Explain the significance of Mendel`s experiments and observations and the laws derived from them. a. Explain the concept of independent

3. In guinea pigs, curly hair (C) is dominant over straight hair (c). If two guinea pigs that have curly hair and are straight hair carriers mate, what is the chance they have a straight haired offspring?

Genotype of parents =

Page 27: Unit 3: Genetics. 1. Explain the significance of Mendel`s experiments and observations and the laws derived from them. a. Explain the concept of independent

1. Explain the significance of Mendel`s experiments and observations and the laws derived from them.

g. Consider the value of the punnett square by creating examples of mono and dihybrid crosses.

Page 28: Unit 3: Genetics. 1. Explain the significance of Mendel`s experiments and observations and the laws derived from them. a. Explain the concept of independent

Review Question....

1. Both a hen and a rooster are heterozygous trait carriers. They both have a trait to be black (B) and a trait to be white (b). Black is the dominant colour, what will the phenotypes and genotypes of their offspring be?

Page 29: Unit 3: Genetics. 1. Explain the significance of Mendel`s experiments and observations and the laws derived from them. a. Explain the concept of independent

Dihybrid Cross

Di = 2Hybrid: result from crosses between parents that are genetically not alike.Dihybrid cross: a cross that involves 2 traits.

Page 30: Unit 3: Genetics. 1. Explain the significance of Mendel`s experiments and observations and the laws derived from them. a. Explain the concept of independent

Example of a dihybrid cross:

Yellow Round X Green Wrinkled

(parent)

YYRR(gametes YR) yyrr (gametes yr)

(F1 generation)

Yellow Round YyRr

Crossed Again

YyRr

X

(gametes = YR, Yr, yR, yr) (gametes = YR, Yr, yR, yr)

(F2 generation)

1 YYRR, 2 YyRR, 2 YYRr, 4 YyRr, 1 YYRR, 2 yyRr, 1 yyrr, 1 YYrr

Page 31: Unit 3: Genetics. 1. Explain the significance of Mendel`s experiments and observations and the laws derived from them. a. Explain the concept of independent

Punnet Square for Dihybrid Cross

YYRRParentYellow & Round(homozygous)

yyrr Green and Wrinkled Parent (homozygous)

yr yr

YR

YR

(F1 Generation)

_ YyRr (yellow & round, heterozygous)

Page 32: Unit 3: Genetics. 1. Explain the significance of Mendel`s experiments and observations and the laws derived from them. a. Explain the concept of independent

YyRr Yellow & Round Parent (heterozygous)

YyRr

Yellow & Round

Parent(heterozygous)

YR Yr yRyr

YR

Yr

yR

yr

Dihybrid Cross Phenotypic Ratio

9/16 Yellow & Round : 3/16 Yellow & Wrinkled : 3/16 Green & Round : 1/16 Green & Wrinkled

**Remember** Dihybrid Cross = 9 : 3 : 3 : 1

Page 33: Unit 3: Genetics. 1. Explain the significance of Mendel`s experiments and observations and the laws derived from them. a. Explain the concept of independent

Examples....

1. Black coat colour (B) in cocker spaniels is dominant to white coat colour (b). Solid coat pattern (S) is dominant to spotted pattern (s). A male that is black with a solid pattern mates with two females. The mating with female A which is white, solid, produces four pups: 2 black, solid, and two white, solid. The mating with female B, which is black, solid, produces a single pup, which is white, spotted. Indicate the genotypes of the parents.

Page 34: Unit 3: Genetics. 1. Explain the significance of Mendel`s experiments and observations and the laws derived from them. a. Explain the concept of independent

2. In guinea pigs, black coat colour (B) is dominant to white (b), and short hair length (S) is dominant to long (s). Indicate the genotypes and phenotypes from the following crosses:

a) Homozygous for black, heterozygous for short-hair guinea pig crossed with a white, long-haired guinea pig.

b) Heterozygous for black and short-hair guinea pig crossed with a white, long-hair guinea pig.

Page 35: Unit 3: Genetics. 1. Explain the significance of Mendel`s experiments and observations and the laws derived from them. a. Explain the concept of independent

c) Homozygous for black and long-hair crossed with a heterozygous black and short-hair guinea pig.

Page 36: Unit 3: Genetics. 1. Explain the significance of Mendel`s experiments and observations and the laws derived from them. a. Explain the concept of independent

2. Discuss the relationship among chromosomes, genes, and DNA.

h. Examine incomplete dominance, alleles, sex determination, and sex-linked traits in the context of human genetics.

i. Discuss several human genetic disorders such as hemophilia, sickle-cell anemia, Down`s syndrome, and Tay-Sach`s disease.

Page 37: Unit 3: Genetics. 1. Explain the significance of Mendel`s experiments and observations and the laws derived from them. a. Explain the concept of independent

Test Cross

There is an organism showing the dominant trait but it is unknown if the organism is homozygous or heterozygous, it's genotype is unknown. To figure out the genotype you cross the unknown genotype and a homozygous recessive genotype.

If the offspring all show the dominant trait, the unknown genotype is homozygous dominant.

If any of the offspring show the recessive trait, the unknown genotype was heterozygous dominant.

Page 38: Unit 3: Genetics. 1. Explain the significance of Mendel`s experiments and observations and the laws derived from them. a. Explain the concept of independent
Page 39: Unit 3: Genetics. 1. Explain the significance of Mendel`s experiments and observations and the laws derived from them. a. Explain the concept of independent

Determine the genotype of the parent plants by looking at the phenotypes of the offspring from the following cross.

Round, yellow X  Wrinkled, green

1/4 round, yellow, 1/4 round, green, 1/4 wrinkled, yellow, 1/4 wrinkled, green

Page 40: Unit 3: Genetics. 1. Explain the significance of Mendel`s experiments and observations and the laws derived from them. a. Explain the concept of independent

Incomplete Dominance

The lack of a dominant gene. Both alleles contribute to the phenotype of a heterozygote. Produces an offspring with traits unlike either parent.

Ex)

Red snapdragon (RR) X White snapdragon (WW)

F1Generation All Pink Snapdragons (RW)

RW X RW

F2 Generation  R W

R

W

1 RR (red) : 2RW (pink) : 1 WW (white)

Page 41: Unit 3: Genetics. 1. Explain the significance of Mendel`s experiments and observations and the laws derived from them. a. Explain the concept of independent

Codominance

Two dominant genes are expressed at the same time in the heterozygous organism.

Ex) Shorthorn Cattle

Red (HRHR) X White (HWHW)

Roan Calf - it has intermingling of white and red hair

F1 Generation (all) HRHW X HRHW

F2 Generation

HR 

Hw

HR HW

1 HRHR : 2HRHW : 1HWHW

Page 42: Unit 3: Genetics. 1. Explain the significance of Mendel`s experiments and observations and the laws derived from them. a. Explain the concept of independent

Multiple Alleles

The problem we have dealt with so far only have dealt with 2 alleles - the dominant allele and the recessive allele. The dominant allele controlled the trait.

Multiple Alleles - when more than 2 different alleles exist for a trait.

Ex) the fruit fly Drosophilz - many different eye colors are possible.

Dominant Hierarchy

Note: a drosophila can only have 2 different genes at one time, but many alleles are possible.

 Red (wild type) eyes : most common Apricot Honey White

Page 43: Unit 3: Genetics. 1. Explain the significance of Mendel`s experiments and observations and the laws derived from them. a. Explain the concept of independent

When using multiple alleles we no longer use upper and lower case letters. Capital letters with subscript numbers are used.

Red (wild type) eyes E1E1 OR E1E2, E1E3, E1E4Apricot E2E2, E2E3, E2E4Honey E3E3, E3E4White E4E4

Page 44: Unit 3: Genetics. 1. Explain the significance of Mendel`s experiments and observations and the laws derived from them. a. Explain the concept of independent

Ex) Human Blood Typing: example of codominance and multiple alleles

The ABO blood typing system in humans is determined by a set of 3 alleles - multiple alleles. IA, IB, i

Different combinations of these alleles in people produce 4 different blood types. Type A, Type B, Type AB, Type O

Genotype PhenotypeIAIA or IAi Type A BloodIBIB or IBi Type B BloodIAI B Type AB Blood *ii Type O Blood

* This is codominance - different alleles expressing their full phenotype in a heterozygote, giving a new phenotype.

Page 45: Unit 3: Genetics. 1. Explain the significance of Mendel`s experiments and observations and the laws derived from them. a. Explain the concept of independent

Exceptions to Mendel's Laws Example Questions...1. For ABO blood groups, the A and B genes are codominant, but both A and B are dominant over type O. Indicate the blood types possible from the mating of a male who is blood type O with a female of blood type AB.

2. Could a female with blood type AB ever produce a child with blood type AB? Could she ever have a child with blood type O?

Page 46: Unit 3: Genetics. 1. Explain the significance of Mendel`s experiments and observations and the laws derived from them. a. Explain the concept of independent

Exceptions to Mendel's Laws Example Questions... 3. Thalassemia is a serious human genetic

disorder that causes severe anemia. The homozygous condition (TmTm) leads to sever

anemia. People with thalassemia die before sexual maturity. The heterozygous condition (TmTn)

causes a less serious form of anemia. The genotype TnTn causes no symptoms of the disease. Indicate

the possible genotypes and phenotypes of the offspring if a male with the genotype TmTn marries

a female of the same genotype.

Page 47: Unit 3: Genetics. 1. Explain the significance of Mendel`s experiments and observations and the laws derived from them. a. Explain the concept of independent

Review...

1. What is incomplete dominance? Provide an example.

2. What is meant by the term "multiple alleles?" Provide an example.

3. What is co-dominance?

Page 48: Unit 3: Genetics. 1. Explain the significance of Mendel`s experiments and observations and the laws derived from them. a. Explain the concept of independent

2. Discuss the relationship among chromosomes, genes, and DNA.

h. Examine incomplete dominance, alleles, sex determination, and sex-linked traits in the context of human genetics.

i. Discuss several human genetic disorders such as hemophilia, sickle-cell anemia, Down`s syndrome, and Tay-Sach`s disease.

Page 49: Unit 3: Genetics. 1. Explain the significance of Mendel`s experiments and observations and the laws derived from them. a. Explain the concept of independent

Incomplete DominanceExamples...

A cross between a blue blahblah bird and a white blahblah bird produces offspring that are sliver. The color of blahblah birds is determined by just two

alleles. a) What are the genotypes of the parent blahblah birds in the original cross?

b) What is/are the genotyp(s) of the silver offspring?

c) What would be the phenotypic ratios of offspring produced by two silver blahblah birds?

Page 50: Unit 3: Genetics. 1. Explain the significance of Mendel`s experiments and observations and the laws derived from them. a. Explain the concept of independent

Incomplete Dominance Examples...

1. The color of fruit for Golgi plants is determined by two alleles. When two plants with orange fruits are crossed the following phenotypic ratios are present in the offspring: 25% red fruit, 50% orange fruit, 25% yellow fruit. What are the genotypes of the parent orange-fruited plants?

Page 51: Unit 3: Genetics. 1. Explain the significance of Mendel`s experiments and observations and the laws derived from them. a. Explain the concept of independent

Co-dominance Example Problem...

1. Predict the phenotypic ratios of offspring when a homozygous white cow is crossed with a roan bull?

2. What should the genotypes and phenotypes for parent cattle be if a farmer wanted only cattle with red fur?

Page 52: Unit 3: Genetics. 1. Explain the significance of Mendel`s experiments and observations and the laws derived from them. a. Explain the concept of independent

Multiple Alleles Example Problem...

1. Remembering what you learned about blood types, what are the possible phenotypes of children in the following families?a) Heterozygous type A mother, Homozygous type A father?

b) Homozygous type B mother, type AB father?

c) type AB mother, type AB father?

Page 53: Unit 3: Genetics. 1. Explain the significance of Mendel`s experiments and observations and the laws derived from them. a. Explain the concept of independent

2. Discuss the relationship among chromosomes, genes, and DNA.

h. Examine incomplete dominance, alleles, sex determination, and sex-linked traits in the contexts of human genetics.

i. Discuss several human genetic disorders such as hemophilia, sickle-cell anemia, Down`s syndrome, and Tay-Sach`s disease.

j. Discuss the similarities and differences between sex chromosomes and somatic chromosomes.

Page 54: Unit 3: Genetics. 1. Explain the significance of Mendel`s experiments and observations and the laws derived from them. a. Explain the concept of independent

Sex - Linked Traits

Sex-linked traits : controlled by genes located on the sex chromosomes.In humans the sex chromosomes go as follows: Female = XX Male = XYThe X chromosomes are relatively the same size. In a female you have two homologous X chromosomes.

X X

Locus: the actual site of the gene on a chromosome.

-- --

Page 55: Unit 3: Genetics. 1. Explain the significance of Mendel`s experiments and observations and the laws derived from them. a. Explain the concept of independent

In a male you have one large X chromosome and a smaller Y chromosome. The Y chromosome is shorter than the X chromosome. Some of the genes on the X chromosome may be missing on the Y chromosome.

--

X Y

There is nothing to match.

Most sex-linked traits are determined by genes found on the X chromosome but not on the Y chromosome.

Page 56: Unit 3: Genetics. 1. Explain the significance of Mendel`s experiments and observations and the laws derived from them. a. Explain the concept of independent
Page 57: Unit 3: Genetics. 1. Explain the significance of Mendel`s experiments and observations and the laws derived from them. a. Explain the concept of independent

Sex-linked disorders in Humans:

1. Color-Blindness: person can't perceive certain colors, usually red and green. : more common in males than females. : Females may be carriers for it, because they have the recessive allele for color-blindness on one X chromosome and the normal dominant allele on the other X chromosome.

Female Carrier Normal Female Color-blind Female

XX'  XX X'X' 

Page 58: Unit 3: Genetics. 1. Explain the significance of Mendel`s experiments and observations and the laws derived from them. a. Explain the concept of independent

Every male gets an X chromosome from its mother and a Y chromosome from his father.  Mother = XX 

Father = XY

Male Offspring XY

Mother a Carrier Father

XX' 

XY

Male Offspring XY or  X'Y  There is a 50% chance that the male son will have color blindness.

Page 59: Unit 3: Genetics. 1. Explain the significance of Mendel`s experiments and observations and the laws derived from them. a. Explain the concept of independent

Since the Y chromosome is smaller than the X, the Y chromosome has no spot for color vision. When a son gets the defective color blind allele from his mother the color blindness is expressed and the son is color blind.

In order for a female to be color blind, she must inherit the color blind allele from both parents and this is a rare event.

Mother  FatherXX'  X'Y

Color-Blind Female Offspring X'X'

Remember: color-blindness is transmitted only through the female.

Page 60: Unit 3: Genetics. 1. Explain the significance of Mendel`s experiments and observations and the laws derived from them. a. Explain the concept of independent

2. Hemophilia: sex-linked disorder in which the blood is unable to clot because it lacks a certain blood-clotting protein.

 : the recessive gene for hemophilia is carried on the X chromosome.

 : Most affected individuals are male.

 : Females with one recessive genes are carriers but show no sign of the illness.

 : Smallest cut or bruise can cause the person to bleed severely.

Page 61: Unit 3: Genetics. 1. Explain the significance of Mendel`s experiments and observations and the laws derived from them. a. Explain the concept of independent

- means of tracing sex-linked traits in family trees through a pictorial representation- females are represented by circles, males are represented as squares.- matings are shown by horizontal lines connecting two individuals- offsprings are connected by vertical lines to the mating line- different shades or colors added to the symbols represent carious phenotypes- each generation is listed on a separate row labeled with Roman Numerals

Pedigree

Page 62: Unit 3: Genetics. 1. Explain the significance of Mendel`s experiments and observations and the laws derived from them. a. Explain the concept of independent

Pedigree

Page 63: Unit 3: Genetics. 1. Explain the significance of Mendel`s experiments and observations and the laws derived from them. a. Explain the concept of independent

Review...

1. Explain why it is more likely for a male child to be born colorblind if his father is normal, but his mother is a carrier for colorblindness.

Page 64: Unit 3: Genetics. 1. Explain the significance of Mendel`s experiments and observations and the laws derived from them. a. Explain the concept of independent

2. Discuss the relationship among chromosomes, genes, and DNA.

a. Describe how the genetic code is carried on the DNA.i. Discuss several human genetic disorders such as hemophilia, sickle-cell anemia, Down`s syndrome, and Tay-Sach`s disease.

Page 65: Unit 3: Genetics. 1. Explain the significance of Mendel`s experiments and observations and the laws derived from them. a. Explain the concept of independent

Chromosomes

Chromosomes: long threads of genetic material found in the nucleus of cells : made up of nucleic acids and proteins : humans have 46 chromosomes (23 pairs)

Genes: located on the chromosomes - made up of DNA - units of instruction, located on chromosomes that produce or influence a specific trait in offspring.

DNA-deoxyribonucleic acid: carries the genetic code, carries genetic information.

Page 66: Unit 3: Genetics. 1. Explain the significance of Mendel`s experiments and observations and the laws derived from them. a. Explain the concept of independent

Diploid Chromosome Number: (2n) the full compliment of chromosomes. Everyday cells in the body, except sex cells have a diploid chromosome number (ex- Humans = 46)

Haploid Chromosome Number: (n) one half of the full compliment of chromosomes. Sex cells have haploid chromosome number (ex- Humans=23)

Homologous Pairs/Homologous Chromosomes: are similar in size, shape, and gene arrangement. Get one from each parent (ex - 23 pairs in humans).

Page 67: Unit 3: Genetics. 1. Explain the significance of Mendel`s experiments and observations and the laws derived from them. a. Explain the concept of independent

Karyotype: pictures of chromosomes arranged in homologous pairs.

Page 68: Unit 3: Genetics. 1. Explain the significance of Mendel`s experiments and observations and the laws derived from them. a. Explain the concept of independent

Sex Chromosomes: chromosomes that determine the sex of an individual. Ex) Human pair #23 XY = male XX = female

Somatic Chromosome/Autosomes: chromosomes not involved with sex determination. Ex) Human pairs #'s 1-22.

Monosomy: is the presence of a single chromosome in place of a homologous pair.

Ex) Turner's Syndrome: a female that has a single X chromosome (pair #23). Only females, do not develop sexually, tend to be short and have thick wide necks.

Page 69: Unit 3: Genetics. 1. Explain the significance of Mendel`s experiments and observations and the laws derived from them. a. Explain the concept of independent

Ex) Klinefelter Syndrome: 3 sex chromosomes (XXY). Appears to be male, @ puberty produces large amounts of female hormones. Sterile.

Trisomy: the presence of three homologous chromosomes in place of homologous pair.

Ex) Down's Syndrome: an extra chromosome for pair #21. Often called trisomy 21. Characteristics include round full face, enlarged creased tongue, short height, large forehead and decreased mental capabilities.

Page 70: Unit 3: Genetics. 1. Explain the significance of Mendel`s experiments and observations and the laws derived from them. a. Explain the concept of independent

b. Outline the process of replication.d. Describe the process of transcription.e. Describe the functions of mRNA, tRNA, amino acids, and ribosomes in protein synthesis.

2. Discuss the relationship among chromosomes, genes, and DNA.

Page 71: Unit 3: Genetics. 1. Explain the significance of Mendel`s experiments and observations and the laws derived from them. a. Explain the concept of independent

Protein Synthesis1. Transcription

2. Translation

Page 72: Unit 3: Genetics. 1. Explain the significance of Mendel`s experiments and observations and the laws derived from them. a. Explain the concept of independent

2. Discuss the relationship among chromosomes, genes, and DNA.

f. Describe the causes and effects of both chromosomes and gene mutations.

Page 73: Unit 3: Genetics. 1. Explain the significance of Mendel`s experiments and observations and the laws derived from them. a. Explain the concept of independent

Mutations Handout

Page 74: Unit 3: Genetics. 1. Explain the significance of Mendel`s experiments and observations and the laws derived from them. a. Explain the concept of independent

2. Discuss the relationship among chromosomes, genes, and DNA.

k. Using examples from living organisms discuss the importance of asexual and sexual reproduction to their growth and survival.

Page 75: Unit 3: Genetics. 1. Explain the significance of Mendel`s experiments and observations and the laws derived from them. a. Explain the concept of independent

Asexual vs. Sexual Reproduction

a. Asexual Reproduction

Asexual cell division = mitosis - producing 2 daughter cells identical to the parent cell.Asexual reproduction in organisms involves one parent with the offspring looking identical to nearly identical to the parent.Cloning is a type of asexual reproduction.Budding is a type of asexual reproduction (ex. hydra, strawberries).There is no variation in traits with asexual reproduction, this is dangerous because what happens if there is a change in environment.

Page 76: Unit 3: Genetics. 1. Explain the significance of Mendel`s experiments and observations and the laws derived from them. a. Explain the concept of independent

b. Sexual Reproduction:

Sexual cell reproduction = meiosis - producing gametes that have genetic variation. Animals that reproduce sexually have male and female sexes. They produce gametes through the process of meiosis.Humans reproduce sexually.In sexual reproduction there is diversity and genetic variation.An advantage of sexual reproduction is that there is variety in the population and some organisms may be better able to survive (survival of the fittest); or if there is an environmental change some organisms may survive while others may not.

Page 77: Unit 3: Genetics. 1. Explain the significance of Mendel`s experiments and observations and the laws derived from them. a. Explain the concept of independent

c. Compare mitosis and meiosis.

2. Discuss the relationship among chromosomes, genes, and DNA.

Page 78: Unit 3: Genetics. 1. Explain the significance of Mendel`s experiments and observations and the laws derived from them. a. Explain the concept of independent

Mitosis...The process in which the cell triggers itself to asexually reproduce forming 2 identical daughter cells from 1 parent cellNecessary for growth and to replace injured cellsBefore the mother cell splits, the chromosomes in it have duplicated into 2 sets.When the mother cell splits, 1 set of chromosomes goes to each of the 2 daughter cells.The process a cell goes through to duplicate itself is called the cell cycle, and looks like this:

Page 79: Unit 3: Genetics. 1. Explain the significance of Mendel`s experiments and observations and the laws derived from them. a. Explain the concept of independent

Mitosis Cell division occurs in a series of stages, or phases.

1st INTERPHASEChromosomes are copied (# doubles).Chromosomes appear as threadlike coils (chromatin) at the start, but each chromosome and its copy (sister chromosome) change to sister chromatids at end of this phase.

centromere

2nd: PROPHASE

Mitosis begins (cell begins to divide)Centrioles (or poles) appear and begin to move to opposite ends of cell.Spindle fibers form between the poles.

Page 80: Unit 3: Genetics. 1. Explain the significance of Mendel`s experiments and observations and the laws derived from them. a. Explain the concept of independent

3rd: METAPHASE

Chromatids (or pairs of chromosomes) attach to the spindle fibers.

sister chromatids

4th: ANAPHASE

Chromatids (or pairs of chromosomes) separate and begin to move to opposite ends of the cell.

sister chromatids

split

Page 81: Unit 3: Genetics. 1. Explain the significance of Mendel`s experiments and observations and the laws derived from them. a. Explain the concept of independent

5th: TELOPHASE

Two new nuclei formChromosomes appear as chromatin (threads rather than rods)Mitosis ends

6th: CYTOKINESIS

Cell membrane moves inward to create two daughter cells - each with its own nucleus with identical chromosomes.

Page 82: Unit 3: Genetics. 1. Explain the significance of Mendel`s experiments and observations and the laws derived from them. a. Explain the concept of independent

One final note... - During telophase in plant cells, a cell plate forms in the center and grows outward creating a cell wall (rather than the cell membrane pinching inward).

cell plate

Page 83: Unit 3: Genetics. 1. Explain the significance of Mendel`s experiments and observations and the laws derived from them. a. Explain the concept of independent

Review...

1. What happens, most importantly, during interphase?

2. What is the end result of mitosis?

Page 84: Unit 3: Genetics. 1. Explain the significance of Mendel`s experiments and observations and the laws derived from them. a. Explain the concept of independent

2. Discuss the relationship among chromosomes, genes, and DNA.

c. Compare mitosis and meiosis.

Page 85: Unit 3: Genetics. 1. Explain the significance of Mendel`s experiments and observations and the laws derived from them. a. Explain the concept of independent

Meiosis...Is the process that takes place in the sex organs of all living organisms in order to produce haploid sex cells (also known as gametes).This process is absolutely essential, otherwise at fertilization, when two gametes unite together, there would be too many chromosomes!In humans, meiosis reduces the number of chromosomes from 46 to 23, so that every sperm or egg cell has 23 chromosomes. At fertilization, 23 chromosomes from the sperm unite with 23 chromosomes from the egg to produce the original 46 chromosomes.

Page 86: Unit 3: Genetics. 1. Explain the significance of Mendel`s experiments and observations and the laws derived from them. a. Explain the concept of independent

Meiosis: two divisions of chromosomes

a. MEIOSIS I = first round of divisions; stage where the chromosome # is reduced by half

i) INTERPHASE I: as in interphase of mitosis, it is the period during which the cell grows and replicates its chromosomes

ii) PROPHASE I Early Prophase I:- chromosomes appear as long, thin threads- nucleoli starts to disappear and centrioles move to opposite ends of the cell

Middle Prophase I:- the chromosomes come together in homologous pairs through the process of synapsis (intertwining)- each homologous pair is composed of chromatids and is referred to as a tetrad - intertwined chromatids may break and exchange segments = crossing over- tetrads become shorter and thicker

Late Prophase I:- centrioles are at opposite poles- spindle formation is complete- nucleus begins to dissolve

Page 87: Unit 3: Genetics. 1. Explain the significance of Mendel`s experiments and observations and the laws derived from them. a. Explain the concept of independent

iii) METAPHASE I

- each tetrad moves onto a spindle and attaches to a single fibril at the equator

iv) ANAPHASE I- centromeres do not divide and homologous chromosomes move apart to opposite poles in a process called segregation- now, half the number of double stranded chromosomes at each pole

Page 88: Unit 3: Genetics. 1. Explain the significance of Mendel`s experiments and observations and the laws derived from them. a. Explain the concept of independent

v) TELOPHASE I- the two sets of double stranded chromosomes become enclosed in new nuclei- chromosomes remain double stranded and disappear- cytokinesis occurs creating two haploid daughter cells that are NOT identical

Page 89: Unit 3: Genetics. 1. Explain the significance of Mendel`s experiments and observations and the laws derived from them. a. Explain the concept of independent

b) MEISOSIS II: occurs in both haploid daughter cells at the same time

Interkinosis: basically interphase, except there is no replication of chromosomes

i) PROPHASE II

ii) METAPHASE II

- nuclear membrane dissolves- centrioles move and spindles form- double-stranded chromosomes shorten and thicken

- double-stranded chromosomes attach the spindle and line up at the equator

Page 90: Unit 3: Genetics. 1. Explain the significance of Mendel`s experiments and observations and the laws derived from them. a. Explain the concept of independent

iii) ANAPHASE II

iv) TELOPHASE II

- the centromere holding each pair of sister chromatids together dissolves- sister chromatids move to opposite poles

- nuclear membranes are restored, spindles disappear, and cytokinesis occurs- results in 4 haploid daughter cells that are different from each other and the parent cell

Page 91: Unit 3: Genetics. 1. Explain the significance of Mendel`s experiments and observations and the laws derived from them. a. Explain the concept of independent

Review...

1. What is the end result of meiosis?

2. Why must our sex cells be produced through meiosis and not mitosis?

Page 92: Unit 3: Genetics. 1. Explain the significance of Mendel`s experiments and observations and the laws derived from them. a. Explain the concept of independent

2. Discuss the relationship among chromosomes, genes, and DNA.

g. Consider the purposes and techniques of gene mapping.

Page 93: Unit 3: Genetics. 1. Explain the significance of Mendel`s experiments and observations and the laws derived from them. a. Explain the concept of independent

Genetic EngineeringActivities

Gene Mapping

there are approximately 100 thousand genes in the nucleus of each human cell among the 46 chromosomes.

Human Genome

all the genes that make up the 'master blue print' 3 billion base pairs of nucleotide bases that make up DNA

Page 94: Unit 3: Genetics. 1. Explain the significance of Mendel`s experiments and observations and the laws derived from them. a. Explain the concept of independent

Human Genome Project

to identify the full set of genetic instructions contained in our cells and to read the complete text written in DNA.Worked on by 100's of biologists, chemists, engineers, mathematicians, etc. all over the world.Will revolutionize our understanding of how genes control the function of the human body.Provide new strategies to diagnose, treat, prevent human diseases.Estimate to take 15 years. 1) complete maps of the 46 chromosomes 2) sequence the DNA in chromosomesit's like shedding an encyclopedia and trying to put it back together again so it can be read.

Consider:Body made of several trillion body cells.Each cell has 46 chromosomes in nucleus.Each chromosome is made of DNA with thousands genes.3 billion base pairs make of DNA.

Page 95: Unit 3: Genetics. 1. Explain the significance of Mendel`s experiments and observations and the laws derived from them. a. Explain the concept of independent

3. Delineate the impact of biotechnology on our society.

a. Describe the basic processes involved in the production of recombinant DNA.b. Discuss examples of current uses of recombinant DNA technology in the agricultural and pharmaceutical industries.c. Discuss techniques of genetic screening.d. Consider the implications of genetic screening of adults, children, and fetuses.

Page 96: Unit 3: Genetics. 1. Explain the significance of Mendel`s experiments and observations and the laws derived from them. a. Explain the concept of independent

Research Project

Page 97: Unit 3: Genetics. 1. Explain the significance of Mendel`s experiments and observations and the laws derived from them. a. Explain the concept of independent

4. Discuss the application of population genetics to the study of evolution.

a. Describe the concepts of the deme and gene pool.b. Consider the Hardy-Weinberg principle.c. Describe the factors which influence genetic drift.d. Consider the relevance of the gene pool and the idea of mutations to the concept of evolution.

Page 98: Unit 3: Genetics. 1. Explain the significance of Mendel`s experiments and observations and the laws derived from them. a. Explain the concept of independent

Population GeneticsActivities