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Genetics: Autosomal Recessive Disorders

Review of recessive disorders found on autosomal chromosomes

AB
chance of autosomal recessive heterozygotes to have an affected child5 + 25
extra credit codeword"karyotype"
chance of autosomal dominant heterozygotes to have an affected child5 + 75
most common lethal gene in caucasiansCystic Fibrosis
lack melanin high frequency in Hopi & Navajo tribesalbinism
abnormal RBCs cause blockage of capillaries & pain due to lack of oxygen. High frequency in black populationSickle cell anemia
lack of phenylalanine metabolism; requires dietary managementPKU
inability to metabolize milk sugargalactosemia
inability to repair UV damage to DNA of the skinXeroderma Pigmentosa
GargoylismHurler's syndrome
causes genetic emphyszemaAlpha-1-Antitrypsin
immotile cilia syndromeKartagner's Syndrome
causes the brain of a fetus to develop outside the craniumMeckel-Gruber Syndrome
"Old age" diseaseProgeria
cloverleaf skullKleeblattschladel Anomaly
lipid buildup in the brain; regression begins at 6 months of ageTay-Sachs
anemia caused by absence of hemoglobin production in RBCs; affects those of Mediterranean decentThalasemia
abnormal connective tissue; loose jointsEhler-Danlos
bony wedge over bridge of noseCraniodiaphyseal Dysplasia
elevated pressure in the eye that can lead to blindnessglaucoma
"Old Age" diseaseProgeria
retarded bone growth; death in infancyLepriconism
1) trait skips generations 2) unaffected parents can have an affected child 3) 25% occurenceautosomal recessive pedigree
1) present in every generation 2) affected individuals can have an unaffected child 3) 50% occurenceautosomal dominant pedigree


Bishop Dwenger High School
Ft. Wayne, IN

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