MECHANISMS OF LOSS OF HETEROZYGOSITY IN RETINOBLASTOMA

被引：89

作者：

ZHU, X

DUNN, JM

GODDARD, AD

SQUIRE, JA

BECKER, A

PHILLIPS, RA

GALLIE, BL

机构：

[1] HOSP SICK CHILDREN,DIV IMMUNOL & CANC,555 UNIV AVE,TORONTO M5G 1X8,ONTARIO,CANADA

[2] UNIV TORONTO,DEPT MOLEC & MED GENET,TORONTO M5S 1A1,ONTARIO,CANADA

[3] CALTECH,PASADENA,CA 91125

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

[5] HOSP SICK CHILDREN,DEPT PATHOL,TORONTO M5G 1X8,ONTARIO,CANADA

来源：

CYTOGENETICS AND CELL GENETICS | 1992年 / 59卷 / 04期

关键词：

D O I：

10.1159/000133261

中图分类号：

Q2 [细胞生物学];

学科分类号：

071009 ; 090102 ;

摘要：

Retinoblastoma (RB) tumors arise when both alleles of the RB1 gene are inactivated by two mutational events (M1 and M2). M1 can be an initial germline or somatic mutation; M2 is frequently loss of heterozygosity (LOH), which makes the cell homozygous or hemizygous for the original mutation. LOH is the major mechanism by which many cancers are initiated. To further delineate the mechanism of LOH, we screened a total of 37 RB tumors for LOH by Southern blot analysis. The tumors were from 17 bilaterally and 17 unilaterally affected patients. Nineteen of 30 informative tumors (63%) from 27 patients showed LOH. Proximal and distal flanking markers on chromosome 13 were informative in 13 tumors, allowing evaluation of the mechanisms by which LOH occurred. Mitotic recombination was implicated in 6 (46%) of the 13 tumors.

引用

页码：248 / 252

页数：5