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| Content Provider | World Health Organization (WHO)-Global Index Medicus |
|---|---|
| Author | Riess, O. Hedrick, A. Andrew, S. Hayden, M. R. Kowbel, D. Collins, C. Weber, B. |
| Description | Country affiliation: Canada Author Affiliation: Weber B ( Department of Medical Genetics, University of British Columbia, Vancouver, Canada.) |
| Abstract | The defect causing Huntington disease (HD) has been mapped to 4p16.3, distal to the DNA marker D4S10. Subsequently, additional polymorphic markers closer to the HD gene have been isolated, which has led to the establishment of predictive testing programs for individuals at risk for HD. Approximately 17% of persons presenting to the Canadian collaborative study for predictive testing for HD have not received any modification of risk, in part because of limited informativeness of currently available DNA markers. Therefore, more highly polymorphic DNA markers are needed, which will further increase the accuracy and availability of predictive testing, specifically for families with complex or incomplete pedigree structures. In addition, new markers are urgently needed in order to refine the breakpoints in the few known recombinant HD chromosomes, which could allow a more accurate localization of the HD gene within 4p16.3 and, therefore, accelerate the cloning of the disease gene. In this study we present the identification and characterization of nine new polymorphic DNA markers, including three markers which detect highly informative multiallelic VNTR-like polymorphisms with PIC values of up to .84. These markers have been isolated from a cloned region of DNA which has been previously mapped approximately 1,000 kb from the 4p telomere. |
| ISSN | 00029297 |
| e-ISSN | 15376605 |
| Journal | The American Journal of Human Genetics |
| Issue Number | 2 |
| Volume Number | 50 |
| Language | English |
| Publisher | Cell Press (on behalf of American Society of Human Genetics) |
| Publisher Date | 1992-02-01 |
| Publisher Place | United States |
| Access Restriction | Open |
| Subject Keyword | Genetics Genetic Markers Huntington Disease Polymorphism, Restriction Fragment Length Chromosomes, Human, Pair 4 Dna Probes Heterozygote Pedigree Restriction Mapping Research Support, Non-u.s. Gov't Discipline Human Genetics |
| Content Type | Text |
| Resource Type | Article |
| Subject | Genetics Genetics (clinical) |
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