MAPPING, CLONING AND GENETIC-CHARACTERIZATION OF THE REGION CONTAINING THE WILSON DISEASE GENE

被引：427

作者：

PETRUKHIN, K

FISCHER, SG

PIRASTU, M

TANZI, RE

CHERNOV, I

DEVOTO, M

BRZUSTOWICZ, LM

CAYANIS, E

VITALE, E

RUSSO, JJ

MATSEOANE, D

BOUKHGALTER, B

WASCO, W

FIGUS, AL

LOUDIANOS, J

CAO, A

STERNLIEB, I

EVGRAFOV, O

PARANO, E

PAVONE, L

WARBURTON, D

OTT, J

PENCHASZADEH, GK

SCHEINBERG, IH

GILLIAM, TC

机构：

[1] COLUMBIA UNIV,DEPT PSYCHIAT,NEW YORK,NY 10032

[2] COLUMBIA UNIV,DEPT GENET & DEV,NEW YORK,NY 10032

[3] COLUMBIA UNIV,DEPT BIOCHEM & MOLEC BIOPHYS,NEW YORK,NY 10032

[4] COLUMBIA UNIV,DEPT MED,NEW YORK,NY 10032

[5] NEW YORK STATE PSYCHIAT INST & HOSP,NEW YORK,NY 10032

[6] NATL CTR STUDY WILSONS DIS,NEW YORK,NY

[7] ST LUKES ROOSEVELT HOSP,NEW YORK,NY

[8] IST RIC TALASSEMIE & ANEMIE MEDITERRANNEE,CAGLIARI,ITALY

[9] HARVARD UNIV,SCH MED,DEPT NEUROSCI,BOSTON,MA

[10] MOSCOW MED GENET RES CTR,MOSCOW,RUSSIA

[11] UNIV CATANIA,PEDIAT CLIN,CATANIA,ITALY

来源：

NATURE GENETICS | 1993年 / 5卷 / 04期

关键词：

D O I：

10.1038/ng1293-338

中图分类号：

Q3 [遗传学];

学科分类号：

071007 [遗传学]; 090102 [作物遗传育种];

摘要：

Wilson disease (WD) is an autosomal recessive disorder of copper transport which maps to chromosome 13q14.3. In pursuit of the WD gene, we developed yeast artificial chromosome and cosmid contigs, and microsatellite markers which span the WD gene region. Linkage disequilibrium and haplotype analysis of 115 WD families confined the disease locus to a single marker interval. A candidate cDNA clone was mapped to this interval which, as shown in the accompanying paper, is very likely the WD gene. Our haplotype and mutation analyses predict that approximately half of all WD mutations will be rare in the American and Russian populations.

引用

页码：338 / 343

页数：6

共 24 条

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CONSTRUCTION AND CHARACTERIZATION OF A YEAST ARTIFICIAL CHROMOSOME LIBRARY CONTAINING 7 HAPLOID HUMAN GENOME EQUIVALENTS [J].