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22 Cards in this Set
- Front
- Back
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what is consanguinity
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--
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autosomal dominaant
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==
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females carriers
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obligate carrier
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not phenotypically obvou byt they are affected, if they are by the logic of pedigree then they are known as carriers.
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x linkedrecessive
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passed on by the mom
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when is the onsetofthe geneticdisorders
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it is not always congenital
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huntingtons
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late onset 30-40
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some develop prenatally and
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birthdefects.
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prenatally lethal
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affect only males and notfemales or viceversa
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abset or arable expression , incomplete penetrace
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gene present but no disease
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multifactorial
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other genenes and enviorenment
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death due to mishap
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in utero
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accuarete information
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lacking - eg people dont know if they were adopted because of cultural differences
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hetereogeniety
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caused by different gene defcts. loss of any one ofthe three genes will affect thesame gene. same phenotype
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locus heretogenity
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mutations at different loci buut representthe same phenotype
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threee genes /on e might haveeen on the x chromosome and others might not have
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autosomal recessive or dominant
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retinis pigmentosa
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different genes can be effected
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ehlers danlos syndrome
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morethan 0different loci
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allelicheterogenit
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same gene. but differen mutation of thesamegene
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not every mutation ofthe same generesults in the same effects
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mutations inthe RET gene
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loss of function mutations in the RETgene results in
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hirshsprung disease- loss of motility, since ganglia responsible forcolon are not developed properly, these people havesevere constipation. removebwels since this is a lia ility
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point mutation
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activate tyrosinekinase receptors
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