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Chpt. 11.1Basic Patterns of
Human Inheritance
PedigreesPedigree – a diagram
that traces the inheritance of a particular trait through several generations.
Carrier – heterozygous individual. They carry the trait but don't express the trait.
Reading a Pedigree
Inheritance of Human Traits
Dominant Genetic Disorders
Dominant Genetic Disorders
Caused by DOMINANT allelesSuch as RR or Rr
Huntington’s DiseaseRare but lethal genetic disorder (1/10,000)Onset between 30-50 years of ageCaused by a rare autosomal (not sex
chromosome) dominant alleleLethal disorder – a disease that causes death in
most of the individuals who are affectedThe nervous system undergoes progressive
degeneration, resulting in uncontrolled, jerky movements of the head and limbs and mental deterioration
No cure or treatment
Pedigree for Huntington’s Disease
Achondroplasia
Affects bone growth of individuals (1/25,000)Causes small body size and limbs that are short
with large head.Most common form of dwarfismAdult height of 4 feet with normal life
expectancy.No cure or treatment
Recessive Genetic Disorders
Cystic Fibrosis
• The most common lethal genetic disorder among white Americans (1/3,500)
• 1 in 20 white Americans is a carrier• 1 in 2000 children born to white Americans inherits
the disorder• Kills about 500 children/young adults each year
• Affects the mucus-producing glands, digestive enzymes, and sweat glands
• Chloride ions are not absorbed into the cells but are excreted in the sweat. Without sufficient chloride ions in the cells, a thick mucus is secreted.
Cystic Fibrosis Symptoms
Mucus in lungs & digestive tract is thick Breathing is difficult Lung infections are frequent Mucus slows secretion of some digestive
enzymes, prevents proper digestion Physical therapy, special diets, & new
drugs have raised the average life expectancy
No cure
Albinism
• Caused by altered genes, resulting in the absence of the skin pigment melanin in hair and eyes
-White hair
-Very pale skin
-Pink pupils
• Occurs 1 in 17,000
• No cure
Tay-Sachs Disease• Caused by the absence of the enzymes
responsible for breaking down fatty acids called gangliosides
• Gangliosides accumulate in the brain, inflating brain nerve cells and causing mental deterioration.
• Identified by cherry-red spot in back of the eye.• Found on chromosome 15• Affects people of Jewish descent (1/2,500)• Death by age 5• No cure or treatment
Galactosemia• Characterized by the inability of the body to
digest galactose. • Lactose (from milk) breaks down into
galactose and glucose. Galactose is broken down by the enzyme GALT. People with galactosemia lack or have a defective GALT.
• Will result in mental disabilities, enlarged liver and kidney failure.
• Occurs in 1/50,000-70,000• No cure but must restrict lactose/galactose I
diet.
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