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Autosomal recessive diseases are genetic diseases that are passed to a
child through both parents' chromosomes. Autosomal recessive diseases include
Tay-Sachs disease, cystic fibrosis, sickle cell anemia, autosomal recessive
polycystic kidney disease (ARPKD), and phenylketonuria (PKU).
person inherits 23 chromosomes from each parent and so has 23 pairs of
chromosomes. Each chromosome contains genes. One or both of the chromosomes in
a pair can carry a mutation and be abnormal or defective in a way that causes a
genetic disease. In an autosomal recessive disease, both chromosomes in a pair
must have a defective gene for the person to have the disease. If only one gene
is defective, the person is a carrier of the disease but
does not have any symptoms.
If only one parent
carries the abnormal gene, there is:
If both parents carry
the abnormal gene, there is:
November 3, 2011
Sarah Marshall, MD - Family Medicine & Siobhan M. Dolan, MD, MPH - Reproductive Genetics
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