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Multiple mutations underlying familial hypercholesterolemia in the South African population.

Abstract：

:Ten restriction fragment length polymorphisms of the LDL receptor gene were used for haplotype analysis in 12 unrelated patients with homozygous familial hypercholesterolemia. These patients were drawn from the Black, Coloured, and White population groups and collectively represent 24 mutant alleles underlying the FH phenotype. Five distinct haplotypes were detected. Hybridization analysis using DNA codigested with EcoRI and PstI revealed that haplotype IV was associated with two distinct mutations. When coupled to the recent demonstration by other workers of two receptor defects in South African Afrikaners homozygous for FH and haplotype I, these data are suggestive of at least seven distinct LDL receptor mutations in the FH patients examined and thus in the general South African population.

journal_name

Hum Genet

journal_title

Human genetics

authors

Henderson HE,Kotze MJ,Berger GM

doi

10.1007/BF00274151

subject

Has Abstract

pub_date

1989-08-01 00:00:00

pages

67-70

issue

1

eissn

0340-6717

issn

1432-1203

journal_volume

83

pub_type

杂志文章

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