MOLECULAR-CLONING AND ANALYSIS OF THE FRAGILE X-REGION IN MAN

被引:50
作者
DIETRICH, A
KIOSCHIS, P
MONACO, AP
GROSS, B
KORN, B
WILLIAMS, SV
SHEER, D
HEITZ, D
OBERLE, I
TONIOLO, D
WARREN, ST
LEHRACH, H
POUSTKA, A
机构
[1] DEUTSCH KREBSFORSCHUNGSZENTRUM,INST VIRUSFORSCH,IM NEUENHEIMER FELD 506,W-6900 HEIDELBERG,GERMANY
[2] LAB GENET MOLEC EUCARYOTES,UNITE BIOL MOLEC & GENIE GENET,U184,F-67085 STRASBOURG,FRANCE
[3] IST GENET BIOCHIM & EVOLUZ,I-27100 PAVIA,ITALY
[4] EMORY UNIV,SCH MED,DEPT BIOCHEM,DIV MED GENET,ATLANTA,GA 30322
[5] EMORY UNIV,SCH MED,DEPT PEDIAT,ATLANTA,GA 30322
[6] IMPERIAL CANC RES FUND,LONDON WC2A 3PX,ENGLAND
关键词
D O I
10.1093/nar/19.10.2567
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 (FraX), the most common inherited form of mental retardation, has been located to Xq27.3. As a step in the molecular analysis of this mutation, we have cloned a contiguous 1.8 Mb region containing the entire fragile X region in YAC and cosmid clones. The cloned area defines a region of 50 kb containing a CpG island, found to be selectively methylated in patients expressing the fragile X phenotype. In this 50kb area we have localised the breakpoints of four somatic cell hybrids selected to break at the position of the fragile site. Fluorescence in-situ hybridisation of cosmids flanking this area shows that the breakpoints, the CpG island and the fragile site coincide.
引用
收藏
页码:2567 / 2572
页数:6
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