title: A common DNA polymorphism of the low-density lipoprotein (LDL) receptor gene and its use in diagnosis.
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.
authors.forename: S E
authors.initials: SE
authors.lastname: Humphries
authors.forename: A M
authors.initials: AM
authors.lastname: Kessling
authors.forename: B
authors.initials: B
authors.lastname: Horsthemke
authors.forename: J A
authors.initials: JA
authors.lastname: Donald
authors.forename: M
authors.initials: M
authors.lastname: Seed
authors.forename: N
authors.initials: N
authors.lastname: Jowett
authors.forename: M
authors.initials: M
authors.lastname: Holm
authors.forename: D J
authors.initials: DJ
authors.lastname: Galton
authors.forename: V
authors.initials: V
authors.lastname: Wynn
authors.forename: R
authors.initials: R
authors.lastname: Williamson
mesh_terms: D000483:Alleles; D003001:Cloning, Molecular; D004247:DNA / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D005796:Genes; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D010375:Pedigree; D011110:Polymorphism, Genetic; D011973:Receptors, LDL / Q000235:genetics*
chemical_list: D011973:Receptors, LDL; D004247:DNA