Skip Navigation

This Article
Right arrow Full Text (PDF)
Right arrow Alert me when this article is cited
Right arrow Alert me if a correction is posted
Services
Right arrow Email this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Add to My Personal Archive
Right arrow Download to citation manager
Right arrow Search for citing articles in:
ISI Web of Science (133)
Right arrowRequest Permissions
Google Scholar
Right arrow Articles by Carmi, R.
Right arrow Articles by Sheffield, V. C.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Carmi, R.
Right arrow Articles by Sheffield, V. C.
Social Bookmarking
Add to CiteULike   Add to Connotea   Add to Del.icio.us  
What's this?

© 1995 Oxford University Press

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

Rivka Carmi, Tatiana Rokhlina1, Anne E. Kwitek-Black1, Khalil Elbedour, Darryl Nishimura1, Edwin M. Stone2 and Val C. Sheffield1,*

Genetics Institute, Soroka Medical Center, Ben Gurion University of the Negev Beer-Sheva, Israel 1 Departments of Pediatrics, University of Iowa Iowa city, IA 52242-1083, USA 2 Departments of Ophthalmology, University of Iowa Iowa city, IA 52242-1083, USA

*To whom correspondence should be addressed

Received July 18, 1994; Revised October 30, 1994; Accepted October 30, 1994

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.


Add to CiteULike CiteULike   Add to Connotea Connotea   Add to Del.icio.us Del.icio.us    What's this?


This article has been cited by other articles:


Home page
 Hum Mol GenetHome page
J. L. Badano, J. C. Kim, B. E. Hoskins, R. A. Lewis, S. J. Ansley, D. J. Cutler, C. Castellan, P. L. Beales, M. R. Leroux, and N. Katsanis
Heterozygous mutations in BBS1, BBS2 and BBS6 have a potential epistatic effect on Bardet-Biedl patients with two mutations at a second BBS locus
Hum. Mol. Genet., July 15, 2003; 12(14): 1651 - 1659.
[Abstract] [Full Text] [PDF]


Disclaimer: Please note that abstracts for content published before 1996 were created through digital scanning and may therefore not exactly replicate the text of the original print issues. All efforts have been made to ensure accuracy, but the Publisher will not be held responsible for any remaining inaccuracies. If you require any further clarification, please contact our Customer Services Department.