Presymptomatic testing for Huntington's disease. A case complicated by recombination within the D4S10 locus.
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.
Curtis
A
A
Human Genetics Unit, University of Edinburgh, Western General Hospital, UK.
Millan
F
F
Holloway
S
S
Mennie
M
M
Crosbie
A
A
Raeburn
J A
JA
Brock
D J
DJ
D000328:Adult; D002874:Chromosome Mapping; D005260:Female; D008040:Genetic Linkage; D005819:Genetic Markers; D006801:Humans; D006816:Huntington Disease / Q000175:diagnosis* / Q000235:genetics; D008297:Male; D010375:Pedigree; D011110:Polymorphism, Genetic; D012150:Polymorphism, Restriction Fragment Length; D011995:Recombination, Genetic; D012307:Risk Factors
D005819:Genetic Markers