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Genetics of Huntington's Disease Huntington's disease (HD) is a familial disease, passed from parent to child through a mutation in the normal gene. The genetic defect responsible for HD is a small sequence of DNA on chromosome 4 in which several base pairs are repeated many, many times. Each parent has two copies of every chromosome but gives only one copy to each child. Each child of an HD parent has a 50-50 chance of inheriting the HD gene. If a child does not inherit the HD gene, he or she will not develop the disease and cannot pass it to subsequent generations. A person who inherits the HD gene will sooner or later develop the disease. Whether one child inherits the gene has no bearing on whether others will or will not inherit the gene. In some families, all the children may inherit the HD gene; in others, none do. Affected
Father Affected Normal Normal Normal Normal Normal
Mother Source: U.S. Department of Health and Human Services, National Institutes of Health, National Institute of Neurological Disorders and Stroke. www.ninds.nih.gov Affected Normal Normal Affected Each child inherits a normal copy of the gene from mother, and either a normal or defective copy form father.