The identification of two low-density lipoprotein receptor gene mutations in South African familial hypercholesterolaemia

Kotze M.J. ; Langenhoven E. ; Warnich L. ; Du Plessis L. ; Marx M.P. ; Oosthuizen C.J.J. ; Retief A.E. (1989)


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Two point mutations were discovered in the low-density lipoprotein genes of patients with familial hypercholesterolaemia (FH). Defective genes were cloned and/or amplified by the polymerase chain reaction (PCR) method and the DNA sequences determined. A guanine to adenine base transition in exon 4 was found to be the molecular defect in 20% of cases of FH in the Afrikaner population. A second mutation, a guanine to adenine base substitution in exon 9, was identified in two homozygous FH individuals. Restriction enzyme analysis of PCR-amplified DNA from blood and tissue samples now permits accurate diagnosis of these mutations.

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