Presymptomatic testing for Huntington's disease
- 1 January 1989
- journal article
- research article
- Published by Springer Nature in Human Genetics
- Vol. 81 (2) , 188-190
- https://doi.org/10.1007/bf00293901
Abstract
Presymptomatic testing for Huntington's disease (HD) is possible through the use of restriction fragment length polymorphisms (RFLPs) at the closely linked D4S10 locus. Recombination between the HD and D4S10 loci will occur in 4%–5% of meioses, and is a well-recognised complication of predictive testing. Recombination between RFLPs within the D4S10 locus is a rare event and can usually be ignored. We report a case where such an intra-locus recombination frustrated attempts to predict the chance of a high-risk individual inheriting the HD gene.Keywords
This publication has 17 references indexed in Scilit:
- A highly polymorphic locus very tightly linked to the Huntington's disease geneNature, 1988
- Predictive Testing for Huntingtons Disease with Use of a Linked DNA MarkerNew England Journal of Medicine, 1988
- A DNA Segment Encoding Two Genes Very Tightly Linked to Huntington's DiseaseScience, 1987
- FIRST-TRIMESTER PRENATAL DIAGNOSIS FOR HUNTINGTON'S DISEASE WITH DNA PROBESThe Lancet, 1987
- Attitudes toward presymptomatic testing in Huntington diseaseAmerican Journal of Medical Genetics, 1987
- At‐risk Persons' attitudes toward presymptomatic and prenatal testing of Huntington disease in MichiganAmerican Journal of Medical Genetics, 1987
- Intended use of predictive testing by those at risk for Huntington diseaseAmerican Journal of Medical Genetics, 1987
- Attitudes of persons at risk for Huntington disease toward predictive testingAmerican Journal of Medical Genetics, 1987
- Huntingtons DiseaseNew England Journal of Medicine, 1986
- A life table for onset of Huntington's choreaAnnals of Human Genetics, 1981