RECOMBINANT MAPPING OF THE FAMILIAL HYPERINSULINISM GENE TO AN 0.8 CM REGION ON CHROMOSOME 11P15.1 AND DEMONSTRATION OF A FOUNDER EFFECT IN ASHKENAZI JEWS

被引：35

作者：

GLASER, B

CHIU, KC

LIU, L

ANKER, R

NESTOROWICZ, A

COX, NJ

LANDAU, H

KAISER, N

THORNTON, PS

STANLEY, CA

CERASI, E

BAKER, L

DONISKELLER, H

PERMUTT, MA

机构：

[1] WASHINGTON UNIV,SCH MED,DEPT SURG,DIV HUMAN MOLEC GENET,ST LOUIS,MO 63110

[2] HEBREW UNIV JERUSALEM,HADASSAH MED SCH,DEPT ENDOCRINOL & METAB,IL-91010 JERUSALEM,ISRAEL

[3] HEBREW UNIV JERUSALEM,HADASSAH MED SCH,DEPT PEDIAT,IL-91010 JERUSALEM,ISRAEL

[4] UNIV CHICAGO,HOWARD HUGHES MED INST,CHICAGO,IL 60637

[5] UNIV CHICAGO,DEPT MED,CHICAGO,IL 60637

[6] CHILDRENS HOSP PHILADELPHIA,DIV ENDOCRINOL DIABET,PHILADELPHIA,PA 19104

来源：

HUMAN MOLECULAR GENETICS | 1995年 / 4卷 / 05期

关键词：

D O I：

10.1093/hmg/4.5.879

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：

A gene for autosomal recessive familial hyperinsulinism (HI) (OMIM: 256450), a neonatal metabolic disease characterized by inappropriate insulin secretion in the presence of severe hypoglycemia, was recently mapped to a 6.6 cM interval between the markers D11S926 and D11S928 on chromosome 11p in 15 families (1). In the current study we evaluated six additional families and five new markers, and further localized the gene between D11S419 and D11S1310. Using genotype data from CEPH Version 7 and data generated from this study, this region was estimated to be 0.8 cM in length, Significant linkage disequilibrium between markers and the HI gene was observed over a region of 10.3 cM (11pter-D11S926-D11S1308-11pcen) for Ashkenazi Jewish chromosomes. Haplotype analysis showed that 12 of 36 HI chromosomes, versus one of 36 non-HI chromosomes,bore a specific haplotype for D11S419-D11S902-D11S921 (p<0.0007), strongly suggesting a founder effect in this ethnic group.

引用

页码：879 / 886

页数：8

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