Literature DB >> 2876626

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

M F Leppert, S J Hasstedt, T Holm, P O'Connell, L Wu, O Ash, R R Williams, R White.   

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.

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Year:  1986        PMID： 2876626      PMCID： PMC1683953     

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


  11 in total

1.  Detection of specific sequences among DNA fragments separated by gel electrophoresis.

Authors:  E M Southern
Journal:  J Mol Biol       Date:  1975-11-05       Impact factor: 5.469

2.  Construction of linkage maps with DNA markers for human chromosomes.

Authors:  R White; M Leppert; D T Bishop; D Barker; J Berkowitz; C Brown; P Callahan; T Holm; L Jerominski
Journal:  Nature       Date:  1985 Jan 10-18       Impact factor: 49.962

3.  Estimation of the concentration of low-density lipoprotein cholesterol in plasma, without use of the preparative ultracentrifuge.

Authors:  W T Friedewald; R I Levy; D S Fredrickson
Journal:  Clin Chem       Date:  1972-06       Impact factor: 8.327

4.  Report of the Committee on Methods of Linkage Analysis and Reporting.

Authors:  P M Conneally; J H Edwards; K K Kidd; J M Lalouel; N E Morton; J Ott; R White
Journal:  Cytogenet Cell Genet       Date:  1985

5.  A general model for the genetic analysis of pedigree data.

Authors:  R C Elston; J Stewart
Journal:  Hum Hered       Date:  1971       Impact factor: 0.444

6.  Genetic heterogeneity in familial hypercholesterolemia: evidence for two different mutations affecting functions of low-density lipoprotein receptor.

Authors:  J L Goldstein; S E Dana; G Y Brunschede; M S Brown
Journal:  Proc Natl Acad Sci U S A       Date:  1975-03       Impact factor: 11.205

7.  Evidence that men with familial hypercholesterolemia can avoid early coronary death. An analysis of 77 gene carriers in four Utah pedigrees.

Authors:  R R Williams; S J Hasstedt; D E Wilson; K O Ash; F F Yanowitz; G E Reiber; H Kuida
Journal:  JAMA       Date:  1986-01-10       Impact factor: 56.272

8.  Restriction sites containing CpG show a higher frequency of polymorphism in human DNA.

Authors:  D Barker; M Schafer; R White
Journal:  Cell       Date:  1984-01       Impact factor: 41.582

9.  Expression of the familial hypercholesterolemia gene in heterozygotes: mechanism for a dominant disorder in man.

Authors:  M S Brown; J L Goldstein
Journal:  Science       Date:  1974-07-05       Impact factor: 47.728

10.  Polymorphism and evolution of Alu sequences in the human low density lipoprotein receptor gene.

Authors:  H H Hobbs; M A Lehrman; T Yamamoto; D W Russell
Journal:  Proc Natl Acad Sci U S A       Date:  1985-11       Impact factor: 11.205
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  10 in total

1.  A Monte Carlo method for combined segregation and linkage analysis.

Authors:  S W Guo; E A Thompson
Journal:  Am J Hum Genet       Date:  1992-11       Impact factor: 11.025

2.  Inheritance of human breast cancer: evidence for autosomal dominant transmission in high-risk families.

Authors:  B Newman; M A Austin; M Lee; M C King
Journal:  Proc Natl Acad Sci U S A       Date:  1988-05       Impact factor: 11.205

3.  Sample-size guidelines for linkage analysis of a dominant locus for a quantitative trait by the method of lod scores.

Authors:  M Boehnke
Journal:  Am J Hum Genet       Date:  1990-08       Impact factor: 11.025

Review 4.  The use of recombinant DNA techniques for the diagnosis of familial hypercholesterolaemia.

Authors:  S Humphries; R Taylor; M Jeenah; M Seed
Journal:  J Inherit Metab Dis       Date:  1988       Impact factor: 4.982

5.  Four DNA polymorphisms in the LDL receptor gene: their genetic relationship and use in the study of variation at the LDL receptor locus.

Authors:  R Taylor; M Jeenah; M Seed; S Humphries
Journal:  J Med Genet       Date:  1988-10       Impact factor: 6.318

6.  Combined linkage and segregation analysis using regressive models.

Authors:  G E Bonney; G M Lathrop; J M Lalouel
Journal:  Am J Hum Genet       Date:  1988-07       Impact factor: 11.025

Review 7.  DNA polymorphism and the study of disease associations.

Authors:  D N Cooper; J F Clayton
Journal:  Hum Genet       Date:  1988-04       Impact factor: 4.132

Review 8.  Diagnosis of genetic disease using recombinant DNA. Supplement.

Authors:  D N Cooper; J Schmidtke
Journal:  Hum Genet       Date:  1987-09       Impact factor: 4.132

9.  Hypercholesterolemia in five Israeli Christian-Arab kindreds is caused by the "Lebanese" allele at the low density lipoprotein receptor gene locus and by an additional independent major factor.

Authors:  A Oppenheim; Y Friedlander; E J Dann; N Berkman; S P Schwartz; E Leitersdorf
Journal:  Hum Genet       Date:  1991-11       Impact factor: 4.132

10.  Hypertension and sodium-lithium countertransport in Utah pedigrees: evidence for major-locus inheritance.

Authors:  S J Hasstedt; L L Wu; K O Ash; H Kuida; R R Williams
Journal:  Am J Hum Genet       Date:  1988-07       Impact factor: 11.025
  10 in total

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