A linkage study of the loci for Huntington's disease and some common polymorphic markers

Abstract

The phenotypic frequencies of 24 polymorphic blood markers in a sample of patients with Huntington''s disease (HD) were compared with those in a sample of healthy Australian volunteers in an effort to detect any associations between HD and the markers concerned. The Rh factor, c, has a significantly lower frequency in the HD sample while ACP1C and Gm12 have a significantly higher frequency. The linkage relations of the HD locus were analyzed with respect to the various marker loci concerned. This analysis involved the development of methods to overcome the general lack of genetic data concerning the affected parent and the possibility that presently unaffected offspring may be asymptomatic carriers of the HD gene. The results suggest that close linkage between the HD locus and Fy, ADA [adenosine deaminase], ACP1, [acid phosphatase], Gc [group specific component] or Bg is highly unlikely. They also suggest a low probability of close linkage to ABO, Rh, Jk, Lu AK, [adenosine kinase,], PGM, [phosphoglucomutase], or C3 [complement component3]. Positive linkage scores were obtained for P, Hp and Gm. The available data were uninformative for linkage between the HD locus and Co 6-PGD [6-phosphogluconate] or E, [psueclocholinesterase].