Patterns of Inheritance-Tom

7/30/2019 Patterns of Inheritance-Tom

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Patterns of Inheritance

by:

Katrina Issa A. Gelaga, RN, MN


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Why do some people inherit patterns that will

display dangerous disease symptoms, such as

those seen in cystic fibrosis?


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Cystic Fibrosis

also known as mucoviscidosis is an autosomalrecessivegenetic disorder that

affects most critically the lungs, and alsothepancreas, liver, and intestine.

CF is caused by a mutation in the gene forthe proteincystic fibrosis transmembraneconductance regulator (CFTR). This protein is required to regulate the components of

sweat, digestive fluids, and mucus

CF is most common among Caucasians; 4% ofpeople of European descent carries one allele forCF
http://en.wikipedia.org/wiki/Autosomalhttp://en.wikipedia.org/wiki/Recessivehttp://en.wikipedia.org/wiki/Lungshttp://en.wikipedia.org/wiki/Lungshttp://en.wikipedia.org/wiki/Genetic_disorderhttp://en.wikipedia.org/wiki/Pancreashttp://en.wikipedia.org/wiki/Liverhttp://en.wikipedia.org/wiki/Intestinehttp://en.wikipedia.org/wiki/Intestinehttp://en.wikipedia.org/wiki/Intestinehttp://en.wikipedia.org/wiki/Pancreashttp://en.wikipedia.org/wiki/Liverhttp://en.wikipedia.org/wiki/Intestinehttp://en.wikipedia.org/wiki/Mutationhttp://en.wikipedia.org/wiki/Genehttp://en.wikipedia.org/wiki/Cystic_fibrosis_transmembrane_conductance_regulatorhttp://en.wikipedia.org/wiki/Cystic_fibrosis_transmembrane_conductance_regulatorhttp://en.wikipedia.org/wiki/Cystic_fibrosis_transmembrane_conductance_regulatorhttp://en.wikipedia.org/wiki/Cystic_fibrosis_transmembrane_conductance_regulatorhttp://en.wikipedia.org/wiki/Cystic_fibrosis_transmembrane_conductance_regulatorhttp://en.wikipedia.org/wiki/Digestionhttp://en.wikipedia.org/wiki/Mucushttp://en.wikipedia.org/wiki/Digestionhttp://en.wikipedia.org/wiki/Mucushttp://en.wikipedia.org/wiki/Caucasian_racehttp://en.wikipedia.org/wiki/Genetic_carrierhttp://en.wikipedia.org/wiki/Caucasian_racehttp://en.wikipedia.org/wiki/Allelehttp://en.wikipedia.org/wiki/Genetic_carrierhttp://en.wikipedia.org/wiki/Allelehttp://en.wikipedia.org/wiki/Allelehttp://en.wikipedia.org/wiki/Genetic_carrierhttp://en.wikipedia.org/wiki/Caucasian_racehttp://en.wikipedia.org/wiki/Mucushttp://en.wikipedia.org/wiki/Digestionhttp://en.wikipedia.org/wiki/Cystic_fibrosis_transmembrane_conductance_regulatorhttp://en.wikipedia.org/wiki/Cystic_fibrosis_transmembrane_conductance_regulatorhttp://en.wikipedia.org/wiki/Cystic_fibrosis_transmembrane_conductance_regulatorhttp://en.wikipedia.org/wiki/Cystic_fibrosis_transmembrane_conductance_regulatorhttp://en.wikipedia.org/wiki/Proteinhttp://en.wikipedia.org/wiki/Genehttp://en.wikipedia.org/wiki/Mutationhttp://en.wikipedia.org/wiki/Intestinehttp://en.wikipedia.org/wiki/Liverhttp://en.wikipedia.org/wiki/Pancreashttp://en.wikipedia.org/wiki/Lungshttp://en.wikipedia.org/wiki/Genetic_disorderhttp://en.wikipedia.org/wiki/Recessivehttp://en.wikipedia.org/wiki/Autosomal


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The cornerstones of management are

proactive treatment ofairway infection, and

encouragement of good nutrition and an

active lifestyle.

Pulmonary rehabilitation

Intravenous, inhaled, and oral antibiotics

transplantation and gene therapy
http://en.wikipedia.org/wiki/Respiratory_tract_infectionhttp://en.wikipedia.org/wiki/Pulmonary_rehabilitationhttp://en.wikipedia.org/wiki/Intravenous_therapyhttp://en.wikipedia.org/wiki/Inhalationhttp://en.wikipedia.org/wiki/Organ_transplanthttp://en.wikipedia.org/wiki/Gene_therapyhttp://en.wikipedia.org/wiki/Gene_therapyhttp://en.wikipedia.org/wiki/Organ_transplanthttp://en.wikipedia.org/wiki/Inhalationhttp://en.wikipedia.org/wiki/Intravenous_therapyhttp://en.wikipedia.org/wiki/Intravenous_therapyhttp://en.wikipedia.org/wiki/Pulmonary_rehabilitationhttp://en.wikipedia.org/wiki/Respiratory_tract_infection


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Chronic Granulomatous Diseases

Mucopolysaccaridosis Diseases

Phenlketonuria Turner's Syndrome

Celiac Disease


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Genetically Inherited Traits

1. Achoo Syndrome

2. Chin Cleft

3. Early Onset Myopia (Childhood Nearsightedness)

4. Bent Little Finger

5. Facial Dimples

6. Eye Color

7. Free Earlobe

8. Hand Clasping

9. Tongue Rolling


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Chin Cleft


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Bent Little Finger:


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Eye Color


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Free Earlobe


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Hand Clasping


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Tongue Rolling


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Universal Principles of Heredity

Blending model of heredity

Before Mendels discovery, people believed that

heredity was a blend of characteristics from

mother and father Particulate model of heredity

Mendel disproved the blending theory


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Reason he use Pea Plants

has variety of strains that showed clear

alternative forms of single traits

he can study inheritance of one feature

unconfused by all other variations

Can be control (self-fertilizes)


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In Mendels pea plant experiments, theparental (P1) generation was pure-bred

and self-fertilized (mated with itself)

In Cross-fertilization (deliberate crosses

between two organisms) the parentsresulted in the first filial (F1)generation The trait showing up in F1 generation was

dominant

The trait that did not show up was recessive


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The F1 generation was allowed to self-fertilize

The Filial (F2) generation resulted in a mix oftraits with the dominant trait showing up

more often than the recessive trait


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Mendels Experiment

Mendel began one of his first experiments by

cross-fertilizing long-stemmed and short-

stemmed pea plants.

An individual pea plant generally has two allelesfor each gene, with one allele on each member of

a homologous pair of chromosomes. The two

alleles for the gene for stem length are a long-stem allele, abbreviated as upper case L, and a

short-stem allele, abbreviated as lowercase l.


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The collection of alleles in an organism is its

genotype.


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Parents

F1

Long Short

All long

Mendel crossed long-and short-stem pea

plants

He got all long-stemmed

progeny in the F1generation

P1

Particulate Model of Heredity


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Long Long Long Short

F2

Self-fertilization

Particulate Model of Heredity

(a) Parents


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Fig. 5-1, p. 87

(c) F2Self-fertilization

(b) F1

Long Short

(a) Parents

All long

Long Long Long ShortStepped Art


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Rules Governing Inheritance of a Single Trait

Genes and alleles:Gene - influences a specific

trait in an organismAlleles - alternate forms of a

gene


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Genes and alleles of the pea plant:

Gene: length of pea stem

Allele: The gene for the pea plant

has 2 alleles: one for short stems

and one for long stems


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Genes, Alleles, and Chromosomes

Stem length gene Flower color gene

Long-stem allele

Short-stem allele

Purple flower alleleWhile flower allele


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Mendels Principle of Segregation: Part 1 - Segregation of Alleles: Pea Plants

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1. A heredity trait is governed by agene

2. Genes reside on chromosomes3. A gene for each trait can exist in

two or more alternative forms

called alleles


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4. Most higher organisms have two copies

of each gene in body cells (diploid), but

gametes (egg & sperm) have only

one copy of each gene (haploid)


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5. Two chromosomes similar in size, shape,and genetic content are calledhomologous

6. A homozygote has two identicalalleles of a gene

A heterozygote has two differentalleles of a gene


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7. A phenotype is the physicalappearance of an organism

whereas a genotype is thegenetic makeup of an organism


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A pair of

homologous

chromosomes

Genotype:

Phenotype:

(c) Homozygous recessive

(two matching recessive alleles)

(b) Heterozygous

(nonmatching alleles)

(a) Homozygous dominant

(two matching dominant alleles)

Long Long Short

L L L l l l

Long-stem

allele

Long-stem

allele

Long-stem

allele

Short-stem

allele

Short-stem

allele

Short-stem

allele

(c) Homozygous recessive(b) Heterozygous(a) Homozygous dominant


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A pair of

homologous

chromosomes

(two matching recessive alleles)(nonmatching alleles)(two matching dominant alleles)

Fig. 5-3, p. 90

Phenotype: Long Long Short

Genotype: L L L l l l

Long-stem

alleleLong-stem

allele

Long-stem

alleleShort-stem

allele

Short-stem

allele

Short-stem

allele

Stepped Art


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8. The dominant allele shows

the phenotype and the

recessive allele is hidden


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9. Pairs of alleles separatebefore egg and sperm

formation (meiosis) Fertilization brings a single

gene from each parent so that

the progeny have two genes


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10.Genes on different chromosomes

assort independently of each other

into gametes11.Linked genes lie on the same

chromosome and tend to be

packaged into gametes together

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Patterns of Inheritance-Tom