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

doi:10.1093/hmg/4.1.9

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

Journal article

Peer reviewed

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 and Val C Sheffield

Human molecular genetics, Vol.4(1), pp.9-13

01/1995

DOI: 10.1093/hmg/4.1.9

PMID: 7711739

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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 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.

Polydactyly - genetics

Humans

Retinitis Pigmentosa - genetics

Male

Obesity - genetics

Syndrome

Intellectual Disability - genetics

DNA - genetics

Hypogonadism - genetics

Homozygote

Pedigree

Chromosomes, Human, Pair 15

Female

Details

Title: Subtitle: Use of a DNA pooling strategy to identify a human obesity syndrome locus on chromosome 15
Creators: Rivka Carmi - Genetics Institute, Soroka Medical Center, Ben Gurion University of the Negev, Beer-Sheva, Israel
Tatiana Rokhlina
Anne E Kwitek-Black
Khalil Elbedour
Darryl Nishimura
Edwin M Stone
Val C Sheffield
Resource Type: Journal article
Publication Details: Human molecular genetics, Vol.4(1), pp.9-13
DOI: 10.1093/hmg/4.1.9
PMID: 7711739
NLM abbreviation: Hum Mol Genet
ISSN: 0964-6906
eISSN: 1460-2083
Publisher: England
Grant note: HG00457 / NHGRI NIH HHS P50HG00835 / NHGRI NIH HHS EY08426 / NEI NIH HHS
Language: English
Date published: 01/1995
Academic Unit: Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Medical Genetics and Genomics; Ophthalmology and Visual Sciences
Record Identifier: 9983980042902771

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