ASSOCIATION OF A CHROMOSOME DELETION SYNDROME WITH A FRAGILE SITE WITHIN THE PROTOONCOGENE CBL2

被引：136

作者：

JONES, C

PENNY, L

MATTINA, T

YU, S

BAKER, E

VOULLAIRE, L

LANGDON, WY

SUTHERLAND, GR

RICHARDS, RI

TUNNACLIFFE, A

机构：

[1] UNIV CALIF SAN DIEGO,DEPT MED,DIV MED GENET,LA JOLLA,CA 92093

[2] UNIV CATANIA 1,PEDIAT CLIN,CATANIA,ITALY

[3] ADELAIDE WOMENS & CHILDRENS HOSP,CTR MED GENET,DEPT CYTOGENET & MOLEC GENET,ADELAIDE,SA 5006,AUSTRALIA

[4] ROYAL CHILDRENS HOSP,MURDOCH INST,MELBOURNE,VIC 3052,AUSTRALIA

[5] UNIV WESTERN AUSTRALIA,DEPT BIOCHEM,NEDLANDS,WA 6009,AUSTRALIA

[6] QUADRANT RES FDN,CAMBRIDGE CB2 2SY,ENGLAND

来源：

NATURE | 1995年 / 376卷 / 6536期

关键词：

D O I：

10.1038/376145a0

中图分类号：

O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

The fragile site FRA11B has been localized to the p(CCG)(n) repeat of the CBL2 proto-oncogene. A proportion of Jacobsen (11q(-)) syndrome patients inherited a chromosome carrying a CBL2 p(CCG)(n) expansion, which was truncated close to FRA11B. These results have broad implications for the role of p(CCG)(n) repeat expansion in the aetiology of genetic disease involving chromosome rearrangements.

引用

页码：145 / 149

页数：5

共 46 条

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