Autosomal Recessive Disorders Flashcards
p^2 represents _____.
the proportion of wild-type homozygotes
q represents _______.
the frequency of the mutant allele
q^2 represents _______.
the frequency of mutant homozygotes
Defects in the phenylalanine hydroxylase cofactor BH4 account for _____ percent of cases of alpha-1 antitrypsin.
2
Genetic testing for ________ is difficult because of allelic heterogeneity.
phenylketonuria
In people with variant phenylketonuria, ______ can be given as a supplement.
Kuvan (a BH4 supplement)
Alpha-1 antitrypsin is most common in those with _______ ancestry.
Northern European
_______ is released by activated neutrophils in the airway. This molecule also activates macrophages.
Elastase
Alpha-1 antitrypsin is also called ______; it is a _____ of the enzyme elastase.
SERPINA1; suicide inhibitor
Tay-Sachs is caused by accumulation of ______ in lysosomes.
Gm2 ganglioside
Tay-Sachs is caused by defective ________ enzymes.
hexoaminidase A
Hexoaminidase B deficiency is called ______.
Sandhoff disease
AB variant is caused by _______.
Gm2 activator deficiency
