Genetic inheritance Word Scramble
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Question | Answer | Gene |
APKD | AD | APKD1 (chromosome 16) |
Familial adenomatous polyposis | AD | APC (chromosome 5) |
Familial hypercholesterolemia (aka ___) | AD (hyperlipidemia type IIa) | LDL receptor |
Hereditary hemorrhagic telangiectasia (aka ___) | AD Oseler-Weber-Rendu) | |
Hereditary spherocytosis | AD | |
Huntington's | AD | CAG repeat (chromosome 4) |
Marfan's syndrome | AD | Fibrillin 1 |
MEN | AD | II, III = ret |
Neurofibramatosis I (aka ___) | AD von Recklinghousen's disease | chromosome 17 |
Neurofibramatosis type 2 | AD | NF2 gene (chromosome 22) |
Tuberous sclerosis | AD | |
von Hippel Lindau | AD | VHL (Chromosome 3) |
Albinsim (locus heterogeneity) | AR | |
Infantile polcystic kidney disease | AR | |
Cystic fibrosis | AR | CFTR gene (Phe 508), (Chromosome 7) |
Glycogen storage disease | AR | |
Hemochromatosis | AR | |
mucopolysaccharidoses (except ___) | AR, Hunter's | |
phenylketonuria | AR | |
sickle cell anemias | AR | |
Sphingolipidoses (except ___) | AR (Fabry's) | |
Thalassemias | AR | |
Bruton's agammaglobulinemia | X | |
Fragile X | X | FMR1 gene (CGC) repeat |
G6PD deficiency | X | |
Ocular albinism | X | |
Lesh-Nyhan syndrome | X | |
Duchenne's/Becker's | X | Duchenne's = DMD deleted dystrophin |
Hemophilia A/B | X | |
Fabry's Disease | X | |
Hunter's Syndrome | X | |
Myotonic dystrophy | trinucleotide repeat | CTG |
Friedrich's Ataxia | trinucleotide repeat | (GAA) |
Hypophasphatemic rickets | X-linked dominant (all female offspring of the affected father are diseased) | |
Leber's hereditary optic neuropathy | Mitochondrial inheritance | |
Achondroplasia | AD | FGF 3 |
Created by:
ddecampo
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