Delineation of a 50 kilobase DNA segment containing the recombination site in a sporadic case of Huntington's disease.
No detectable rearrangements involving chromosome 4p16.3 have been observed in patients with Huntington's disease (HD). New mutations for HD could involve structural alterations which might aid the localization of the defective gene. We have reinvestigated a well documented sporadic case of HD. DNA haplotyping with markers between D4S10 and the telomeric locus D4S141 reveals a recombination event in one chromosome of the sporadic HD patient. The site of recombination maps within a 50 kilobase (kb) region, about 700 kb from the 4p telomere. Based on the extremely low HD mutation rate and significantly decreased recombination in the distal region of 4p, we hypothesize a direct link between the site of the recombination and HD in this patient.
Weber
B
B
Department of Medical Genetics, University of British Columbia, Vancouver, Canada.
Riess
O
O
Wolff
G
G
Andrew
S
S
Collins
C
C
Graham
R
R
Theilmann
J
J
Hayden
M R
MR
D000328:Adult; D000483:Alleles; D001483:Base Sequence; D002648:Child; D002874:Chromosome Mapping; D016386:Chromosome Walking; D002894:Chromosomes, Human, Pair 4; D003001:Cloning, Molecular; D005260:Female; D015321:Gene Rearrangement / Q000235:genetics*; D005819:Genetic Markers; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D006816:Huntington Disease / Q000235:genetics*; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics; D010375:Pedigree; D011110:Polymorphism, Genetic / Q000235:genetics; D011995:Recombination, Genetic / Q000235:genetics*
D005819:Genetic Markers