1552-4833/asset/olbannerleft.gif?v=1&s=dc5513758e0602016bfe88cd52afd78bf862aab9)
1552-4833/asset/olbannerright.gif?v=1&s=c3d8a0f0a45667625907578ec1e0f011cbe060b1)
Rapid Publication Article
Prenatal exclusion testing for Huntington disease using the polymerase chain reaction
Article first published online: 5 JUN 2005
DOI: 10.1002/ajmg.1320320232
Copyright © 1989 Wiley-Liss, Inc., A Wiley Company
1552-4833/asset/cover.gif?v=1&s=9818ec8c89d0772bf0e752b15694c460afb83f9f "American Journal of Medical Genetics")
Additional Information
How to Cite
McIntosh, I., Curtis, A., Millan, F. A., Brock, D. J. H., Opitz, J. M. and Reynolds, J. F. (1989), Prenatal exclusion testing for Huntington disease using the polymerase chain reaction. Am. J. Med. Genet., 32: 274–276. doi: 10.1002/ajmg.1320320232
Publication History
- Issue published online: 5 JUN 2005
- Article first published online: 5 JUN 2005
Funded by
- Scottish Hospital Endowments Research Trust and the Ludovici Trust of the University of Edinburgh
- Abstract
- References
- Cited By
Keywords:
- Huntington disease;
- prenatal exclusion testing;
- gene tracking;
- polymerase chain reaction
Abstract
Prenatal exclusion of Huntington disease (HD) may be carried out by analysis of cosegregating DNA markers on a first-trimester chorionic villus sample. The conventional Southern blot method is time-consuming and requires microgram quantities of DNA and milligram quantities of villus tissue. The use of the polymerase chain reaction (PCR) to amplify genomic DNA by a factor of 107 or more makes it possible to do analyses on very small samples in a few hours and without recourse to Southern blotting or hybridization with radioactive probes. We report on a fetus at risk of HD; prenatal testing was carried out by using the PCR to amplify a polymorphic DNA sequence adjacent to the HD locus. The risk of the fetus inheriting the HD gene could not be excluded and the pregnancy was terminated. This represents an example of gene tracking by using amplification of a restriction fragment length polymorphism at some distance from the relevant mutation.