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