USE OF A DNA POOLING STRATEGY TO IDENTIFY A HUMAN OBESITY SYNDROME LOCUS ON CHROMOSOME-15

被引:152
作者
CARMI, R
ROKHLINA, T
KWITEKBLACK, AE
ELBEDOUR, K
NISHIMURA, D
STONE, EM
SHEFFIELD, VC
机构
[1] UNIV IOWA,DEPT PEDIAT,IOWA CITY,IA 52242
[2] UNIV IOWA,DEPT OPHTHALMOL,IOWA CITY,IA 52242
[3] BEN GURION UNIV NEGEV,SOROKA MED CTR,INST GENET,IL-84105 BEER SHEVA,ISRAEL
关键词
D O I
10.1093/hmg/4.1.9
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
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.
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页码:9 / 13
页数:5
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