散发性肾母细胞瘤中一种新的WT1突变的鉴定。

Identification of a new WT1 mutation in a sporadic Wilms' tumour.

作者信息

Santos A C, Boavida M G, Costa A, Osorio-Almeida L

机构信息

Laboratório de Genética Molecular, Faculdade de Ciências e Tecnologia, Universidade Nova de Lisboa, 2825 Monte de Caparica, Portugal.

出版信息

Biochim Biophys Acta. 1998 Aug 14;1407(2):109-13. doi: 10.1016/s0925-4439(98)00032-5.

DOI:10.1016/s0925-4439(98)00032-5

PMID:9685601

Abstract

A new mutation in WT1 is described in a sporadic unilateral Wilms' tumour consisting of a 17 bp duplication in exon 7 generating a stop codon. The second allele is either partially deleted or presents the same alteration. LOH analysis at 11p15.5 and at the 16q13-16q24.3 regions indicated retention of heterozygosity in the tumour DNA for the markers analysed. The results are consistent with Knudson's hypothesis and confirm that loss of function of WT1 contributes to the development of at least some Wilms' tumours.

摘要

在一例散发的单侧肾母细胞瘤中发现了WT1基因的一个新突变，该突变位于第7外显子，由17个碱基对的重复序列组成，产生了一个终止密码子。第二个等位基因要么部分缺失，要么呈现相同的改变。对11p15.5和16q13 - 16q24.3区域进行杂合性缺失（LOH）分析表明，所分析的肿瘤DNA标记物保持了杂合性。这些结果与克努森假说一致，并证实WT1功能丧失至少在部分肾母细胞瘤的发生发展中起作用。