Use of a DNA pooling strategy to identify a human obesity syndrome locus on chromosome 15

Rivka Carmi, Tatiana Rokhlina, Anne E. Kwitek-Black, Khalil Elbedour, Darryl Nishimura, Edwin M. Stone, Val C. Sheffield

Research output: Contribution to journalArticlepeer-review

168 Scopus citations

Abstract

Bardet-Biedl syndrome is a heterogeneous autosomal recessive disorder characterized by obesity, mental retardation, polydactyly, retinitis pigmentosa and hypogonadism. Patients with this disorder also have a high incidence of hypertension, diabetes mellitus, and renal and cardiovascular anomalies. Three independent loci causing Bardet-Biedl syndrome have previously been reported. In this study, we utilized a DNA pooling approach using DNA samples from a highly inbred Bedouin kindred to identify a new Bardet-Biedl syndrome locus on chromosome 15. The results further demonstrate the genetic heterogeneity of this disorder. In addition, the results demonstrate the efficiency of the DNA pooling approach for identifying recessive disease loci in highly inbred human populations.

Original languageEnglish
Pages (from-to)9-13
Number of pages5
JournalHuman Molecular Genetics
Volume4
Issue number1
DOIs
StatePublished - 1 Jan 1995

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics
  • Genetics(clinical)

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