Use of a DNA pooling strategy to identify a human obesity syndrome locus on chromosome 15. Hum Mol Genet 1995 Jan;4(1):9-13
Date
01/01/1995Pubmed ID
7711739DOI
10.1093/hmg/4.1.9Scopus ID
2-s2.0-0028851065 (requires institutional sign-in at Scopus site) 168 CitationsAbstract
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.
Author List
Carmi R, Rokhlina T, Kwitek-Black AE, Elbedour K, Nishimura D, Stone EM, Sheffield VCAuthor
Anne E. Kwitek PhD Professor in the Physiology department at Medical College of WisconsinMESH terms used to index this publication - Major topics in bold
Chromosomes, Human, Pair 15DNA
Female
Homozygote
Humans
Hypogonadism
Intellectual Disability
Male
Obesity
Pedigree
Polydactyly
Retinitis Pigmentosa
Syndrome
