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15 Cards in this Set
- Front
- Back
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Allelic Heterogeneity
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mult alleles at a given locus
congenital absense of Vas Deferens and CFTR |
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Locus Heterogeneity
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mult mtns at a locus causes same condition
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Modifier Genes
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other things that modulate Dz severity
ApoE in alzheimers TGFB1 in CF |
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enzymopathies
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partial df --gout
complete df--lesch nehan syndrome |
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PKU -AR
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df: phenylalanine hydroxylase=Classic PKU
df: BH4 Locus heterog |
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Alkaptonuria -AR
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df: homogentisate oxidase
tx: inc Vit C |
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Occulocutaneous ALBINISM
AR |
df: Tyrosinease (converts tyr--> melanin)
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Homocystinuria -AR
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df: cystathionine B-synthase
can also be cause by other df (Vit B12, folate, met synthase, pyridoxal Phosohate)=locus heterog |
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Maple Suryp Urine Dz -AR
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br chn alpha keto acid DH
accum: Ile, Leu, Val |
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Type 1 Glycogen storage Dz
von Gierkes |
df: G-6-P
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Type 2 Glycogen storage Dz
Pompe's "Pouch" |
lysosomal storage disorder
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Type 3 Glycogen storage Dz
Cori's |
df: debranching enz
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Type 4 Glycogen storage Dz
Andersons |
df: branching enz
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Type 5 Glycogen storage Dz
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df: mm phosphorylase
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Type 6 Glycogen storage Dz
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df: Liver phosphorylase
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