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

来源：

NUCLEIC ACIDS RESEARCH | 1991年 / 19卷 / 10期

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

页码：2567 / 2572

页数：6

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