A DNA PROBE FOR THE LDL RECEPTOR GENE IS TIGHTLY LINKED TO HYPERCHOLESTEROLEMIA IN A PEDIGREE WITH EARLY CORONARY-DISEASE
- 1 September 1986
- journal article
- research article
- Vol. 39 (3) , 300-306
Abstract
A large, multigenerational family with dominantly inherited hypercholesterolemia was analyzed for genetic linkage between blood levels of low-density lipoprotin (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.This publication has 13 references indexed in Scilit:
- Detection of specific sequences among DNA fragments separated by gel electrophoresisPublished by Elsevier ,2006
- Polymorphism and evolution of Alu sequences in the human low density lipoprotein receptor gene.Proceedings of the National Academy of Sciences, 1985
- Report of the committee on methods of linkage analysis and reportingCytogenetic and Genome Research, 1985
- Construction of linkage maps with DNA markers for human chromosomesNature, 1985
- Restriction sites containing CpG show a higher frequency of polymorphism in human DNACell, 1984
- Automated enzymic measurement of total cholesterol in serum.Clinical Chemistry, 1978
- Genetic heterogeneity in familial hypercholesterolemia: evidence for two different mutations affecting functions of low-density lipoprotein receptor.Proceedings of the National Academy of Sciences, 1975
- Expression of the Familial Hypercholesterolemia Gene in Heterozygotes: Mechanism for a Dominant Disorder in ManScience, 1974
- Estimation of the Concentration of Low-Density Lipoprotein Cholesterol in Plasma, Without Use of the Preparative UltracentrifugeClinical Chemistry, 1972
- A General Model for the Genetic Analysis of Pedigree DataHuman Heredity, 1971