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Activity Number:
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242
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Type:
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Contributed
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Date/Time:
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Tuesday, August 5, 2008 : 8:30 AM to 10:20 AM
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Sponsor:
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Section on Statistics in Epidemiology
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| Abstract - #302362 |
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Title:
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Estimating Risk for Transmission of Expanded Repeats Among Male Carriers of Intermediate Huntington Gene Alleles
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Author(s):
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Audrey E. Hendricks*+ and Jeanne Latourelle and Kathryn Lunetta and Marcy MacDonald and Adrienne Cupples and James Gusella and Richard Myers
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Companies:
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Boston University School of Public Health and Boston University School of Medicine and Boston University School of Public Health and Harvard Medical School and Boston University School of Public Health and Harvard Medical School and Boston University School of Medicine
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Address:
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Boston University Medical Center, Department of Biostatistics, Boston, MA, 02118-2526,
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Keywords:
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Huntington ; HD ; genetic ; probability ; counseling ; neurology
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Abstract:
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Huntington disease (HD) is a dominantly transmitted neurodegenerative disease that arises from an expansion of a CAG trinucleotide repeat on chromosome 4p16.3. CAG repeat allele lengths are defined as fully penetrant at = 40, reduced penetrance at 36-39, intermediate at 27-35, and normal at = 26. Fathers, but not mothers, with intermediate alleles (IA) are at risk of transmitting potentially penetrant HD alleles (= 36) to offspring. We estimated the conditional probability of a child having a penetrant allele given a father with an IA by applying Bayes and other probability rules to estimates of HD incidence, paternal birth rate, frequency of de novo HD, and frequency of IAs in the general population. The estimated risk that a male IA carrier will have a child with a penetrant allele ranges from 1/569 to 1/9480. These estimates may be useful in genetic counseling for male IA carriers.
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