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.
引用
收藏
页码:9 / 13
页数:5
相关论文
共 50 条
[1]   IDENTIFICATION OF A 6TH LOCUS FOR AUTOSOMAL-DOMINANT RETINITIS-PIGMENTOSA ON CHROMOSOME-19 [J].
ALMAGHTHEH, M ;
INGLEHEARN, CF ;
KEEN, TJ ;
EVANS, K ;
MOORE, AT ;
JAY, M ;
BIRD, AC ;
BHATTACHARYA, SS .
HUMAN MOLECULAR GENETICS, 1994, 3 (02) :351-354
[2]  
AMMANN F, 1970, J GENET HUM, V18, P1
[3]   USE OF POOLED DNA SAMPLES TO DETECT LINKAGE DISEQUILIBRIUM OF POLYMORPHIC RESTRICTION FRAGMENTS AND HUMAN-DISEASE - STUDIES OF THE HLA CLASS-II LOCI [J].
ARNHEIM, N ;
STRANGE, C ;
ERLICH, H .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1985, 82 (20) :6970-6974
[4]   A MUTATION IN THE TER GENE CAUSING INCREASED SUSCEPTIBILITY TO TESTICULAR TERATOMAS MAPS TO MOUSE CHROMOSOME-18 [J].
ASADA, Y ;
VARNUM, DS ;
FRANKEL, WN ;
NADEAU, JH .
NATURE GENETICS, 1994, 6 (04) :363-368
[5]  
Bardet G., 1920, THESIS U PARIS
[6]   FAST AND SENSITIVE SILVER STAINING OF DNA IN POLYACRYLAMIDE GELS [J].
BASSAM, BJ ;
CAETANOANOLLES, G ;
GRESSHOFF, PM .
ANALYTICAL BIOCHEMISTRY, 1991, 196 (01) :80-83
[7]  
Biedl A., 1922, DEUT MED WOCHENSCHR, V48, P1630
[8]   FAMILIAL RESEMBLANCE OF BODY-WEIGHT AND WEIGHT-HEIGHT IN 374 HOMES WITH ADOPTED-CHILDREN [J].
BIRON, P ;
MONGEAU, JG ;
BERTRAND, D .
JOURNAL OF PEDIATRICS, 1977, 91 (04) :555-558
[9]  
BLANTON SH, 1992, GENOMICS, V11, P857
[10]   GENETIC-FACTORS IN OBESITY [J].
BOUCHARD, C .
MEDICAL CLINICS OF NORTH AMERICA, 1989, 73 (01) :67-81