A YAC CONTIG ACROSS THE FRAGILE X SITE DEFINES THE REGION OF FRAGILITY

被引：47

作者：

HIRST, MC

RACK, K

NAKAHORI, Y

ROCHE, A

BELL, MV

FLYNN, G

CHRISTADOULOU, Z

MACKINNON, RN

FRANCIS, M

LITTLER, AJ

ANAND, R

POUSTKA, AM

LEHRACH, H

SCHLESSINGER, D

DURSO, M

BUCKLE, VJ

DAVIES, KE

机构：

[1] JOHN RADCLIFFE HOSP,MOLEC GENET GRP,OXFORD OX3 9DU,ENGLAND

[2] WASHINGTON UNIV,MED CTR,SCH MED,DEPT MICROBIOL & IMMUNOL,ST LOUIS,MO 63110

[3] CNR,INT INST GENET & BIOPHYS,I-80125 NAPLES,ITALY

[4] JOHN RADCLIFFE HOSP,INST MOLEC MED,MRC,MOLEK HAEMATOL UNIT,OXFORD OX3 9DU,ENGLAND

[5] ICI PLC,DEPT BIOTECHNOL,MACCLESFIELD SK10 4TG,CHESHIRE,ENGLAND

[6] IMPERIAL CANC RES FUND,LONDON WC2A 3PX,ENGLAND

[7] GERMAN CANC RES CTR,INST VIROL,W-6900 HEIDELBERG 1,GERMANY

来源：

NUCLEIC ACIDS RESEARCH | 1991年 / 19卷 / 12期

基金：

英国医学研究理事会;

关键词：

D O I：

10.1093/nar/19.12.3283

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：

The fragile X syndrome is a common cause of mental retardation and is associated with a fragile site at Xq27.3 (FRAXA). Recently, evidence has been presented for the role of methylation and genomic imprinting in the expression of the disease. We have identified a site of methylation in patients by long range restriction mapping of the region. In this paper we present a YAC contig of this area, localise the CpG sequences which are methylated, and show by in situ hybridisation that the site of fragility lies within this region.

引用

页码：3283 / 3288

页数：6

共 25 条

[1] YEAST ARTIFICIAL CHROMOSOMES CONTAINING HUMAN XQ24-XQ28 DNA - LIBRARY CONSTRUCTION AND REPRESENTATION OF PROBE SEQUENCES [J].