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19 Cards in this Set
- Front
- Back
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1 gene has >1 effect on an individual's phenotype
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pleiotrophy
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cells in the body have different genetic makeup
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mosaicism
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presence of both normal & mutated mitochondrial DNA (mtDNA)→ l/t variable expression in mitochondrial inherited dzs
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heteroplasmy
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offspring gets 2 copies of a chromosome from 1 parent & no copies from the other
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uniparental disomy
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equation for disease prevalence
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p^2 + 2pq + q^2 = 1
2pq = heterozygote prev p^2 & q^2 = homozygotes |
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equation for allele prevalence
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p + q = 1
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prevalence of an XLR dz in males
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q (where q^2 = prev of homozyg recessive)
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prev of XLR dz in females
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q^2 (where q^2 also = prev of homozyg)
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prader-willi has a deletion of the maternal or paternal allele? what chromosome?
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- chromosome 15
- paternal allele deleted |
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angelman's syndrome has a deletion of the maternal or paternal allele? what chromosome?
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- chromosome 15
- maternal allele deleted |
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MR, seizures, ataxia, inappropriate laughter
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angelman's syndrome
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degeneration of retinal ganglion cells & axons→ l/t acute loss of central vision
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Leber's hereditary optic neuropathy
(mitochondrial inheritance) |
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dz a/w ↑ paternal age
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achondroplasia
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inheritance of achondroplasia
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AD FGFR3 gene mutation (fibroblast growth factor receptor 3)
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dz a/w APKD1 gene mutation
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autosomal dom polycystic kidney disease (ADPKD)
(the adult form) |
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bilateral, massive enlargement of kidneys d/t multiple large cysts
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AD-PKD
(adult form) |
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flank pain, hematuria, HTN, progressive renal failure, autosomal dominant
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AD-PKD
(adult form) |
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other dzs/probs a/w AD-PKD
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- polycystic liver dz
- berry aneurysm* - MV prolapse |
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dz a/w deletion of APC gene
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familial adenomatous polyposis
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