Principles Med Genetics 8/31/05
Terms
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copy deck
- ____ is when 2 different mutant alleles at a given locus
- compound heterozygote
- ____one mutant allele at 2 different loci
- double heterozygote
- Most dominant genes code for __________
- structural proteins
- Most recessive alleles code for________________
- enzymes or regulatory proteins
- ___ results from genetic and environmental causes
- multifactorial
- 3 non mendelian forms of inheritance are--?
- mitochondrial, genomic imprinting, and triplet repeats
- diabetes, hypertension, obseity, cancer, and heart disease are examples of what kind of genetic disorders?
- multifactorial
- Mitochonrial genome inherited from________, disorders influence ___ and ____, and ______ and _______
-
maternal
neurological and muscle,
energy and metabolism - What is Prader Willi syndrome?
-
inherit deletion from dad
both copies from mom
genomic imprinting - What is Angelman syndrome?
-
inherit deletion from mom
both copies from dad - Fragile X, Huntington disease, myotonic dystropy are all examples of what category of genetic disorder?
- Trinucleotide repeats
- 2 hardy weinberg equations
-
p2+2pq+q2=1
p+q=1 -
q2=
q=
2pq= -
disease frequency
gene frequency
carrier frequency - If unaffected individual has affected sibling, they have ____ freq, (*1/2 since half chance passing it on)
- 2/3
- _____ disorders areless severe and age dependent
- autosomal dominant
- Polyposis coli, polycystic kideny disease, Marfan, achondroplasia, Huntington chorea, neurofibromatosis, myotonic dystrophy, Facuio-scapulo, Waardenburg, Holt-Oram, Von Willebrand are what types of disorders?
- Autosomal dominant
- _____ are usually associated with enzyme activity, more severe less variable, less age dependent
- autosomal recessive
- Cystic fibrosis, phenylketonuria, Werdnig-hoffman, Ellis van creveld, galactosaemia, Tay-sachs, albinism,fancoui,ataxia telangiectasia,absent radii and thromnocytopenia are types of what disorders?
- autosomal recessive
- Xg blood group,Vit D resistent rickets, oral facial digital, incontenentia pigmentii, focal dermal hypoplasia are types what disorders?
- X linked dominant
- Duchenne Muscular dystrophy, Becker M.D.,Fabry, Lesch-nyhan, Wiskott-aldrich, Haemophilia A B, nephrogenic diabetes are types of what disorder
- X linked recessive