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Genetics
Question | Answer |
---|---|
AD or AR? Achondroplasia | Auto Dominant |
AD or AR? Polycystic kidney dz | AD |
AD or AR? Hereditary spherocytosis | AD |
AD or AR? Marfan | AD |
AD or AR? NF I & II | AD |
AD or AR? Protein C deficiency | AD |
AD or AR? Tuberous sclerosis | AD |
AD or AR? Von Willebrand dz | AD |
AD or AR? Congenital adrenal hyperplasia | AR |
AD or AR? Cystic fibrosis | AR |
AD or AR? Galactosemia (CHO metabolism dysfn) | AR |
AD or AR? Gaucher dz (lysosomal storage dz) | AR |
AD or AR? PKU (phenylketonuria) | AR |
AD or AR? SCD | AR |
AD or AR? Ray-Sachs | AR |
AD or AR? Wilson dz | AR |
AD or AR? GSDs (glycogen storage dz: von Gierke, Pompe, McArdle) | AR |
Auto dominant dz: code for: | structural proteins |
Auto recessive dz: code for: | enzymes |
Teratogen exposure: before 12 wks -> | organogenesis and tissue morphogenesis |
Teratogen exposure: after 12 wks -> | fetal growth; CNS devt |
Mode of transmission: G6PD deficiency | x-linked recessive |
Mode of transmission: Hemophilia A & B | x-linked recessive |
Mode of transmission: Duchenne | x-linked recessive |
AD or AR? von Hippel Lindau dz | AD |
Autosomal Dominant Disorders | Heterozygote (Aa) manifests dz (Marfan; Achondroplasia) |
Autosomal Recessive Disorders | Homozygote (aa) manifests dz (Hurler Syndrome, osteogenesis Imperfecta type II & III) |
Gender-Linked Dominant Disorders | Heterozygote (XX or XY) manifests condition (Vitamin D resistant rickets) |
Gender-Linked Recessive Disorders | Heterozygote male (XY) is affected; hetero female (XX) not affected (Duchenne MD; Hunter Syndrome) |
Chromosomal Abnormalities | Abnormality in specific region of a chromosome or an abnormal number of chromosomes (Down Syndrome & Polydactyly) |
Most common chromosomal abnormality | Down syndrome (1:7060 newborns). Higher incidence in infants born to moms >35 yo |