ISOLATION OF A YEAST ARTIFICIAL CHROMOSOME CONTIG SPANNING THE GREIG CEPHALOPOLYSYNDACTYLY SYNDROME (GCPS) GENE REGION

被引：13

作者：

VORTKAMP, A

GESSLER, M

LEPASLIER, D

ELASWARAPU, R

SMITH, S

GRZESCHIK, KH

机构：

[1] INST HUMANGENET MARBURG,D-35037 MARBURG,GERMANY

[2] HGMP RESOURCE CTR,HARROW HA1 3UJ,MIDDX,ENGLAND

[3] CTR ETUD POLYMORPHISME HUMAIN,F-75010 PARIS,FRANCE

来源：

GENOMICS | 1994年 / 22卷 / 03期

关键词：

D O I：

10.1006/geno.1994.1429

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：

Disruption of the zinc finger gene GLI3 has been shown to be the cause of Greig cephalopolysyndactyly syndrome (GCPS), at least in some GCPS translocation patients. To characterize this genomic region on human chromosome 7p13, we have isolated a YAC contig of more than 1000 kb including the GLI3 gene. In this contig the gene itself spans at least 200-250 kb. A CpG island is located in the vicinity of the 5' region of the known GLI3 cDNA, implying a potential promoter region. (C) Academic Press, Inc.

引用

页码：563 / 568

页数：6

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