Carrier Test for Autosomal Recessive Diseases
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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).
Each 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.
|One parent is a carrier||Both parents are carriers|
If only one parent carries the abnormal gene, there is:
If both parents carry the abnormal gene, there is:
Last Revised: October 31, 2013
Author: Healthwise Staff
Medical Review: Kathleen Romito, MD - Family Medicine & Siobhan M. Dolan, MD, MPH - Reproductive Genetics
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