Wilm瘤中p16基因缺失一例报告  

A CASE OF p16 GENE DELETION IN WILM'S TUMOR

作　　者：光炜[1] 王菁[1] 杜传书[1] 刘唐彬[1] 潘翠玲[1] 

机构地区：[1]中山医科大学医学遗传学研究室

出　　处：《中华医学遗传学杂志》1997年第1期28-30,共3页Chinese Journal of Medical Genetics

摘　　要：为调查ｐ１６基因在Ｗｉｌｍ瘤中的改变，采用ＰＣＲ－ＳＳＣＰ法对手术治疗的２４例Ｗｉｌｍ瘤患者肿瘤组织标本，进行了ｐ１６基因第１，２，３外显子的突变筛查，结果未发现异常泳动带。用双重对照ＰＣＲ，发现一例ｐ１６基因的纯合缺失。p16(MTS1/p16INK4/CDKN2) gene has been implicated as a tumor suppressor gene. Its mutations were found in a variety of human tumors and cell lines. In order to investigate the p16 gene alterations in wilm's tumor, the authors examined 24 primary Wilm's tumors for mutations of p16 gene. By using the PCR SSCP, no p16 gene point mutation was detected. Homozygous deletion of the p16 gene was identified in one case by comparative multiplex PCR analysis. These results support that multiple genetic alterations of genes are involved in Wilm's tumorigenesis.

关 键 词：Wilm瘤 P16基因 聚合酶链式反应-单链构象多态性 

分 类 号：R737.11[医药卫生—肿瘤]