FLUORESCENCE INSITU HYBRIDIZATION MAPPING OF 25 MARKERS ON DISTAL HUMAN CHROMOSOME-2Q SURROUNDING THE HUMAN WAARDENBURG SYNDROME, TYPE-I (WS1) LOCUS (PAX3 GENE)

被引：40

作者：

KUO, JL

WARD, DC

SPRITZ, RA

机构：

[1] UNIV WISCONSIN,DEPT MED GENET,317 LAB GENET,445 HENRY MALL,MADISON,WI 53706

[2] UNIV WISCONSIN,DEPT PEDIAT,MADISON,WI 53706

[3] YALE UNIV,SCH MED,DEPT GENET,NEW HAVEN,CT 06510

[4] YALE UNIV,SCH MED,DEPT MOLEC BIOPHYS & BIOCHEM,NEW HAVEN,CT 06510

来源：

GENOMICS | 1993年 / 16卷 / 01期

关键词：

D O I：

10.1006/geno.1993.1155

中图分类号：

Q81 [生物工程学（生物技术）]; Q93 [微生物学];

学科分类号：

071005 ; 0836 ; 090102 ; 100705 ;

摘要：

A total of 25 DNA markers located on the long arm of human chromosome 2 have been mapped by fluorescence in situ hybridization. This region includes the locus for Waardenburg syndrome, type I (WSl), recently found to result, at least in some cases, from mutations of the PAX3 gene. We have established that the chromosomal location of the PAX3 gene is within band 2q36. We also show that three markers in the distal 2q region, including the PAX3 gene, are deleted in a patient with phenotypic features of WSl associated with a de novo deletion (2)(q35q36.2). The improved physical map of this region should facilitate linkage mapping and positional cloning of loci on distal 2q. © 1993 Academic Press, Inc.

引用

页码：173 / 179

页数：7

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