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Genotypes & Phenotypes:
Terminology
1) Gene, Locus (plural = Loci)
2) Allele
3) Genotype
4) Phenotype
Genotypes & Phenotypes:
1) Penetrance
2) Variable Expressivity
3) Pleiotropism
Alcohol
Dehydrogenase
(ADH)
Alcohol
HGSS: Carey: Figure 5.3
Aldehyde
Dehydrogenase
(ALDH)
Acetaldehyde
Acetic Acid
Cholesterol
Ambiguous, no
androgens, salt-wasting
desmolase
Pregnenolone
Ambiguous,
androgens,
hypertension
17-a-hydroxylase
low
17-Hydroxypregnenalone
3-b-OHdehydrogenase
Androgens
Virilized,
high
androgens, lethal
17-Hydroxyprogesterone
Virilized,
high
androgens, salt-wasting
21-hydroxylase
11-Deoxycortisol
Virilized,
high
androgens,
hypertension
11-b-hydroxylase
Cortisol
HGSS: Carey: Figure 5.2
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