A common DNA polymorphism of the low-density lipoprotein (LDL) receptor gene and its use in diagnosis

S. E. Humphries*, B. Horsthemke, M. Seed, M. Holm, V. Wynn, A. M. Kessling, J. A. Donald, N. Jowett, D. J. Galton, R. Williamson

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

52 Citations (Scopus)

Abstract

A cloned gene probe coding for the low-density lipoprotein (LDL) receptor was used to detect a restriction fragment length polymorphism with the enzyme Pvu II. The frequency of the rare allele is approximately 0·2 both in normal controls and individuals with familial hypercholesterolaemia (FH). About 30% of individuals are heterozygous for the polymorphism, and are potentially informative for family studies and for early diagnosis of FH. This polymorphism was used to follow the inheritance of the LDL receptor gene in two families with FH. In these families, the polymorphism co-segregates with the disease unambiguously, and therefore can be used for early diagnosis.

Original languageEnglish
Pages (from-to)1003-1005
Number of pages3
JournalThe Lancet
Volume325
Issue number8436
DOIs
Publication statusPublished - 4 May 1985
Externally publishedYes

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