| | |  | | | | Record from Web of Science® | | | | | | |
| USE OF A DNA POOLING STRATEGY TO IDENTIFY A HUMAN OBESITY SYNDROME LOCUS ON CHROMOSOME-15 |
|
|
| Author(s): CARMI R, ROKHLINA T, KWITEKBLACK AE, ELBEDOUR K, NISHIMURA D, STONE EM, SHEFFIELD VC |
| Source: HUMAN MOLECULAR GENETICS Volume: 4 Issue: 1 Pages: 9-13 Published: JAN 1995 |
| Times Cited: 137 References: 50 |
| 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. |
| Document Type: Article |
| Language: English |
Addresses:
1. UNIV IOWA, DEPT PEDIAT, IOWA CITY, IA 52242 USA
2. UNIV IOWA, DEPT OPHTHALMOL, IOWA CITY, IA 52242 USA
3. BEN GURION UNIV NEGEV, SOROKA MED CTR, INST GENET, IL-84105 BEER SHEVA, ISRAEL |
| Publisher: OXFORD UNIV PRESS UNITED KINGDOM, WALTON ST JOURNALS DEPT, OXFORD, ENGLAND OX2 6DP |
| Subject Category: Biochemistry & Molecular Biology; Genetics & Heredity |
| IDS Number: QD371 |
| ISSN: 0964-6906 |
|
| | | | | | | | | Record from Web of Science® | | | | | | | | | |