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| specific position/location on a chromosome; usually refers to a specific gene |
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| alternative forms of a gene or DNA sequence @ given locus |
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| for a given locus multiple alleles may exist (doesn't apply to all loci!) |
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| Sexually reproducing organisms have genes that occur in pairs; only one gene of the pair is transmitted to an offspring (segregation). |
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| • Every affected individual has an affected parent |
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| • recurrence risk – child of Dd and dd has a ** chance of being affected (** if both are Dd) |
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| • Generation Skipping: the trait is more likely found in siblings but not in offspring |
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| For two Mm carriers, the recurrence risk to have an affected child is 25% or ¼ |
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| • Never passed from father to son; Males >> females |
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| • Males and females can both be affected, but twice as many females are affected than males in the general population |
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| • All daughters of an affected male and a normal female are affected |
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| probability that a gene will have any phenotypic expression |
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| severity of expression of the phenotype among individuals w/ the same disease |
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| a disease caused by mutation in 2 distinct genes – (with only one mutation or the other the person is healthy, but a disease is expressed in combination of both mutations) |
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Expression depends on inheritance from mother vs. father
o Ex. deletion occurring on chromosome 15 inherited from the father= Prader-Willi syndrome; from mother = Angelman syndrome; due to epigenetic regulation |
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