Niemann Pick disease Type A is a disease that is acquired
if both the alleles or copies of the gene that control the production of the enzyme acid
sphingomyelinase (ASM) are mutated in a person.
This
happens only if both the parents of the child are
carriers.
If the offspring's father is not a carrier of the
disease and therefore has normal genes and the mother is a carrier and has one mutant
allele, the child will not acquire the disease.
The Punnett
square to show all the possible genotypes
is:
....................Mother (N
M)
Father N N N
M
(N N) N N M
N
(Bold: genome of
offspring)
There is a 2 in 4 chance that the
offspring is a carrier of the disease and a 2 in 4 chance that the offspring is healthy
and does not carry any mutation of the gene that leads to the
disease.
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