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PMID: 2876626 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, P.H.S.

A DNA probe for the LDL receptor gene is tightly linked to hypercholesterolemia in a pedigree with early coronary disease.

American journal of human genetics ·Vol. 39 ·No. 3 ·1986-09-00 ·Pages 300-6

Leppert MF, Hasstedt SJ, Holm T, O'Connell P, Wu L, Ash O, Williams RR, White R

Abstract

A large, multigenerational family with dominantly inherited hypercholesterolemia was analyzed for genetic linkage between blood levels of low-density lipoprotein (LDL) cholesterol and the locus for the LDL receptor. A genetic marker was identified by restriction fragment length polymorphism (RFLP) in a cloned segment of the LDL receptor gene. We found no exceptions to segregation of the high-LDL cholesterol phenotype with a unique allele at the LDL receptor locus in this pedigree; tight linkage was indicated by a maximum lod score of 7.52 at theta = 0. Knowledge of the LDL receptor genotype will enable investigators to study variability of phenotypic expression in response to environmental influences or to different genetic determinants.

MeSH Terms

Cholesterol, LDL/blood Coronary Disease/blood,genetics DNA/genetics Female Genetic Linkage Genetic Markers Humans Hyperlipoproteinemia Type II/blood,genetics Lod Score Male Pedigree Polymorphism, Restriction Fragment Length Receptors, LDL/genetics Risk

Chemicals

Cholesterol, LDL Genetic Markers Receptors, LDL DNA

Authors & Affiliations

8 authors, click to expand affiliations / ORCID

Leppert M F

Hasstedt S J

Holm T

O'Connell P

Wu L

Ash O

Williams R R

White R

References (11)

11 references, click to expand

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Article Info

Journal

American journal of human genetics

Abbr.

Am J Hum Genet

ISSN

0002-9297

Published

1986-09-00

Pages

300-6

Language

English

Region

United States

NLM ID

0370475

PMCID

PMC1683953

Subset

Grants

NHLBI NIH HHS · HL21088-09 · United States

External Links

PubMed source PMC Full Text View journal details

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A DNA probe for the LDL receptor gene is tightly linked to hypercholesterolemia in a pedigree with early coronary disease.

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