title: Low-density lipoprotein-receptor gene haplotypes in Afrikaans-speaking patients with homozygous familial hypercholesterolaemia. Further evidence in support of a founder gene.
abstract: Pvu II and Stu I restriction fragment length polymorphisms of the low-density lipoprotein-receptor gene were used for receptor allele haplotype analysis in 6 unrelated white Afrikaans-speaking subjects with homozygous familial hypercholesterolaemia (FH). Five patients were homozygous for P-S+, one of four possible haplotypes, and 1 patient showed compound heterozygosity for P-S+ and P+S-. The haplotype distribution in these patients differed from the calculated distribution in the general Afrikaner population at the 5-10% level of significance. These data support the founder gene hypothesis advanced to account for the high frequency of FH in the Afrikaans population. Four non-Afrikaner homozygous FH patients, also investigated in this study, manifested a variety of haplotypes in conformity with the heterogeneity underlying FH reported by others.
mesh_terms: D000293:Adolescent; D000328:Adult; D000483:Alleles; D044383:Black People; D002648:Child; D002675:Child, Preschool; D005260:Female; D006239:Haplotypes; D006720:Homozygote; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000235:genetics*; D008297:Male; D010375:Pedigree; D011973:Receptors, LDL / Q000235:genetics*; D013019:South Africa; D044465:White People
chemical_list: D011973:Receptors, LDL