Publication Date:
1985-08-23
Description:
To test the hypothesis that interfamily variability in Huntington's Disease (HD) is due to mutation at different loci, linkage analysis was undertaken in two large HD kindreds that differed in ethnicity, age-at-onset, and neurologic and psychiatric features. Both families showed linkage of the HD locus to the G8 probe. Several recombinants were documented in each family, and the best estimate of the recombination fraction for the two families was 6 percent with a 95 percent confidence interval of 0 to 12 percent. Although the data support the existence of a single HD locus, use of the G8 probe for presymptomatic testing in these kindreds would have resulted in a 12 percent error rate in genotype assignment at the HD locus.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Folstein, S E -- Phillips, J A 3rd -- Meyers, D A -- Chase, G A -- Abbott, M H -- Franz, M L -- Waber, P G -- Kazazian, H H Jr -- Conneally, P M -- Hobbs, W -- AM 13983/AM/NIADDK NIH HHS/ -- NS 16367/NS/NINDS NIH HHS/ -- NS 16375/NS/NINDS NIH HHS/ -- New York, N.Y. -- Science. 1985 Aug 23;229(4715):776-9.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/2992086" target="_blank"〉PubMed〈/a〉
Keywords:
*Chromosomes, Human, 4-5
;
DNA Restriction Enzymes
;
DNA, Recombinant
;
Female
;
Genetic Linkage
;
Humans
;
Huntington Disease/*genetics
;
Male
;
Pedigree
;
Recombination, Genetic
;
Risk
Print ISSN:
0036-8075
Electronic ISSN:
1095-9203
Topics:
Biology
,
Chemistry and Pharmacology
,
Computer Science
,
Medicine
,
Natural Sciences in General
,
Physics
