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Inherited Disorders

http://www.afrikaansealbinos.nl/Images/thumbBIG_moederkind.jpg. Inherited Disorders. http://www.buzzle.com/img/articleImages/412837-5542-42.jpg. http://www.udel.edu/chem/theopold/chem465/copland.udel.edu/~jwhite/littleguy.jpg.

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Inherited Disorders

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  1. http://www.afrikaansealbinos.nl/Images/thumbBIG_moederkind.jpghttp://www.afrikaansealbinos.nl/Images/thumbBIG_moederkind.jpg Inherited Disorders http://www.buzzle.com/img/articleImages/412837-5542-42.jpg http://www.udel.edu/chem/theopold/chem465/copland.udel.edu/~jwhite/littleguy.jpg http://1.bp.blogspot.com/_dpa_wFaJO0A/S6oygfFXp9I/AAAAAAAAAA4/leJLvWBMSHA/s1600/F%26txray.jpg

  2. Pedigree Offspring in birth order (1st born = left)

  3. Recessively Inherited Diseases • Most people with recessive disorders are born to heterozygous parents (who are carriers of the disorder- but have a normal phenotype) • Albinism- 1:17,000; 1:70 carriers (higher rates in parts of Africa) • Tay-Sachs disease- brain cells cannot metabolize certain lipids; high in Ashkenazic Jew population • Cystic fibrosis- high concentration of extracellular chloride- causing mucus to develop on certain cells; 1:2500 people of European decent; 1:25 are carriers • Sickle-Cell Disease- hemoglobin molecules aggregate into long rods; 1:400 African Americans; 1:10 are carriers

  4. Dominantly Inherited Disorders • Dominant alleles are NOT always more common in a population! • Achondroplasia (form of dwarfism);1:25,000 • Polydactyly- extra fingers/toes;1:400 • Huntington’s Disease- degenerative disease of the nervous system (no phenotypic effect until age35-45); 1:10,000

  5. Testing • Track family pedigree • Amniocentesis (10mL of amniotic fluid taken beginning at 14-16 weeks) • Chorionic villus sampling (CVS)- sample of placenta taken as early as 8-10 weeks • Newborn blood tests

  6. Chromosomal Disorders*Due to nondisjunction- chromosomes/chromatids do not behave normally in meiosis • Down syndrome(trisomy 21): The result of an extra copy of chromosome 21; 1:800 children • Klinefelter syndrome: 47, XXYmales. Male sex organs; unusually small testes, sterile, normal intelligence. • 47, XYY males: Individuals are somewhat taller than average and often have below normal intelligence. • Trisomy X: 47, XXX females. 1:1000 live births - healthy and fertile • Monosomy X (Turner's syndrome): 1:5000 live births; the only viable monosomy in humans - women with Turner's have only 45 chromosomes

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