Six DNA polymorphisms in the low density lipoprotein receptor gene: their genetic relationship and an example of their use for identifying affected relatives of patients with familial hypercholesterolaemia.

doi:10.1136/jmg.30.4.273

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Article

Six DNA polymorphisms in the low density lipoprotein receptor gene: their genetic relationship and an example of their use for identifying affected relatives of patients with familial hypercholesterolaemia.

Journal of medical genetics - 1 Apr 1993

Humphries S, King-Underwood L, Gudnason V, Seed M, Delattre S, Clavey V, Fruchart J C

Abstract excerpt

We have determined the relative allele frequency and estimated linkage disequilibrium between six DNA polymorphisms of the low density lipoprotein (LDL) receptor gene. Polymorphisms were detected using the enzymes SfaNI, TaqI, StuI, HincII, AvaII, and NcoI after DNA amplification by the polymeras...

Topics

Alleles
Base Sequence
DNA
DNA Mutational Analysis
Female
Gene Frequency
Humans
Hyperlipoproteinemia Type II
Linkage Disequilibrium
Male
Molecular Sequence Data
Pedigree
Polymerase Chain Reaction
Polymorphism, Restriction Fragment Length

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Receptors, LDL

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Identifiers

PMID: 8098067
DOI: 10.1136/jmg.30.4.273
PMCID: PMC1016331

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-8098067-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.