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Human genetic disorders Donald Winslow 1 March 2011 References: Hoefnagels, Marïelle. 2009. Biology, 1st ed., McGraw-Hill, NY; Ch. 10 pp 201, 204-205,

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Presentation on theme: "Human genetic disorders Donald Winslow 1 March 2011 References: Hoefnagels, Marïelle. 2009. Biology, 1st ed., McGraw-Hill, NY; Ch. 10 pp 201, 204-205,"— Presentation transcript:

1 Human genetic disorders Donald Winslow 1 March 2011 References: Hoefnagels, Marïelle Biology, 1st ed., McGraw-Hill, NY; Ch. 10 pp 201, , 208; Ch. 11 pp 215, Mader, Sylvia S Biology, 9th ed., McGraw-Hill, NY; Ch. 11 pp ; Ch 12. pp Mader, Sylvia S Inquiry into Life, 13 th ed., McGraw-Hill, NY; Ch. 23 pp , Ch. 24 pp

2 Objectives Describe & give specific examples of human genetic disorders that are: –Autosomal dominant –Autosomal recessive –Incompletely dominant –X-linked recessive

3 Autosomal dominant disorders Huntington’s disease –Progressive neurological degeneration –Eventually fatal –Symptoms start late in life Marfan syndrome –Defect in elastic connective tissue protein –Dislocated lens, long limbs, weak aorta

4 Autosomal recessive disorders Tay-sachs disease –Within first year development slows down –Leads to severe seizures and paralysis Cystic fibrosis –Respiratory disease –Mutation in protein affects ion transport –Mucus builds up in lungs

5 Incomplete dominance Familial hypercholesterolemia –High blood cholesterol –Cholesterol deposits accumulate on fingers Sickle-cell anemia –Homozygote has severe blood disease –Heterozygote carrier mostly healthy –Carrier resistant to malaria –Prevalent in tropical countries

6 X-linked recessive disorders Hemophilia –Blood does not clot well –Prevalent in royal families of Europe Red-green color blindness Duchenne muscular dystrophy –Muscles degenerate Fragile X syndrome –Can cause mental impairment or autism

7 Practice Punnett squares & pedigrees!


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