Frequency of Autosomal Recessive Disease
Disease List
Albinism
Alpha1-Antitrypsin deficiency
Cystic fibrosis
Cystinuria
Galactosemia
Gaucher's Type I (Ashkenazi Jew)
Hartnup Disease
Hemochromatosis
Homocystinuria
Iminoglycinuria
Maple syrup urine disease
Metachromatic leukodystrophy
Phenylketonuria
Sickle cell disease (African American)
Tay-Sachs (Ashkenazi Jew)
Tay-Sachs
Wilson's disease
Disease Frequency
Frequency of Mutant allele (q) :
Frequency of carrier: (2pq)
Nonconsanguineous Mating
PRIOR PROBABILITY O BEING A CARRIER ( 0 to 1)
(0.67 if parent has an affected sib)
Consanguineous Mating:
Parent1
parent and offspring
brother and sister
half siblings
uncle and niece
aunt and nephew
first cousins
double first cousins
half first cousins
first cousins once removed
second cousins
second cousins once removed
third cousins
Parent2
Frequency of Disease
Frequency of Disease
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