SUSCEPTIBILITY TO INSULIN-DEPENDENT DIABETES-MELLITUS MAPS TO A 4.1 KB SEGMENT OF DNA SPANNING THE INSULIN GENE AND ASSOCIATED VNTR

被引：239
作者：
LUCASSEN, AM
JULIER, C
BERESSI, JP
BOITARD, C
FROGUEL, P
LATHROP, M
BELL, JI
机构：
[1] JOHN RADCLIFFE HOSP,INST MOLEC MED,MOLEC IMMUNOL GRP,OXFORD OX3 9DU,ENGLAND
[2] CTR ETUD POLYMORPHISME HUMAIN,F-75010 PARIS,FRANCE
来源：
NATURE GENETICS | 1993年 / 4卷 / 03期
基金：
英国惠康基金;
关键词：
D O I：
10.1038/ng0793-305
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
Recent studies have demonstrated that a locus at 11p15.5 confers susceptibility to insulin dependent diabetes mellitus (IDDM). This locus has been shown to lie within a 19 kb region. We present a detailed sequence comparison of the predominant haplotypes found in this region in a population of French Caucasian IDDM patients and controls. Identification of polymorphisms both associated and unassociated with IDDM has allowed us to define further the region of association to 4.1 kb. Ten polymorphisms within this region are in strong linkage disequilibrium with each other and extend across the insulin gene locus and the variable number tandem repeat (VNTR) situated immediately 5' to the insulin gene. These represent a set of candidate disease polymorphisms one or more of which may account for the susceptibility to IDDM.
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页码：305 / 310
页数：6
相关论文
共 40 条
[1]   INSULIN GENE REGION-ENCODED SUSCEPTIBILITY TO TYPE-1 DIABETES IS NOT RESTRICTED TO HLA-DR4-POSITIVE INDIVIDUALS [J].
BAIN, SC ;
PRINS, JB ;
HEARNE, CM ;
RODRIGUES, NR ;
ROWE, BR ;
PRITCHARD, LE ;
RITCHIE, RJ ;
HALL, JRS ;
UNDLIEN, DE ;
RONNINGEN, KS ;
DUNGER, DB ;
BARNETT, AH ;
TODD, JA .
NATURE GENETICS, 1992, 2 (03) :212-215
[2]  
BELL G I, 1985, American Journal of Human Genetics, V37, pA188
[3]  
Bell G I, 1987, Ciba Found Symp, V130, P167
[4]   THE HIGHLY POLYMORPHIC REGION NEAR THE HUMAN INSULIN GENE IS COMPOSED OF SIMPLE TANDEMLY REPEATING SEQUENCES [J].
BELL, GI ;
SELBY, MJ ;
RUTTER, WJ .
NATURE, 1982, 295 (5844) :31-35
[5]   A POLYMORPHIC LOCUS NEAR THE HUMAN INSULIN GENE IS ASSOCIATED WITH INSULIN-DEPENDENT DIABETES-MELLITUS [J].
BELL, GI ;
HORITA, S ;
KARAM, JH .
DIABETES, 1984, 33 (02) :176-183
[6]   ISOLATION OF THE HUMAN INSULIN-LIKE GROWTH-FACTOR GENES - INSULIN-LIKE GROWTH FACTOR-II AND INSULIN GENES ARE CONTIGUOUS [J].
BELL, GI ;
GERHARD, DS ;
FONG, NM ;
SANCHEZPESCADOR, R ;
RALL, LB .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1985, 82 (19) :6450-6454
[7]   POLYMORPHIC DNA REGION ADJACENT TO THE 5'-END OF THE HUMAN INSULIN GENE [J].
BELL, GI ;
KARAM, JH ;
RUTTER, WJ .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA-BIOLOGICAL SCIENCES, 1981, 78 (09) :5759-5763
[8]   TRIPLET REPEAT MUTATIONS IN HUMAN-DISEASE [J].
CASKEY, CT ;
PIZZUTI, A ;
FU, YH ;
FENWICK, RG ;
NELSON, DL .
SCIENCE, 1992, 256 (5058) :784-789
[9]   EVIDENCE FOR INCREASED RECOMBINATION NEAR THE HUMAN INSULIN GENE - IMPLICATION FOR DISEASE ASSOCIATION STUDIES [J].
CHAKRAVARTI, A ;
ELBEIN, SC ;
PERMUTT, MA .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1986, 83 (04) :1045-1049
[10]  
COX NJ, 1988, AM J HUM GENET, V43, P495
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