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家族性肾母细胞瘤易感性与19号染色体的连锁关系以及家族性肿瘤病因的双基因座模型。

Linkage of familial Wilms' tumor predisposition to chromosome 19 and a two-locus model for the etiology of familial tumors.

作者信息

McDonald J M, Douglass E C, Fisher R, Geiser C F, Krill C E, Strong L C, Virshup D, Huff V

机构信息

Department of Experimental Pediatrics/Genetics, The University of Texas M. D. Anderson Cancer Center, Houston 77030, USA.

出版信息

Cancer Res. 1998 Apr 1;58(7):1387-90.

PMID:9537236
Abstract

Familial predisposition to Wilms' tumor (WT), a childhood kidney tumor, is inherited as an autosomal dominant trait. For most WT families studied, the 11p13 gene WT1 and genomic regions implicated in tumorigenesis in a subset of tumors can be ruled out as the site of the familial predisposition gene. Following a genome-wide genetic linkage scan, we have obtained strong evidence (log of the odds ratio = 4.0) in five families for an inherited WT predisposition gene (FWT2) at 19q13.3-q13.4. In addition, we observed loss of heterozygosity at 19q in tumors from individuals from two families in which 19q can be ruled out as the site of the inherited predisposing mutation. From these data, we hypothesize that alterations at two distinct loci are critical rate-limiting steps in the etiology of familial WTs.

摘要

肾母细胞瘤(WT)是一种儿童期肾脏肿瘤,其家族易感性以常染色体显性性状遗传。对于大多数已研究的WT家族而言,11p13基因WT1以及在部分肿瘤中涉及肿瘤发生的基因组区域,可被排除为家族性易感基因的位点。在进行全基因组遗传连锁扫描后,我们在五个家族中获得了有力证据(优势比的对数 = 4.0),表明在19q13.3 - q13.4存在一个遗传性WT易感基因(FWT2)。此外,我们在来自两个家族的个体的肿瘤中观察到19q杂合性缺失,而在这两个家族中19q可被排除为遗传性易感突变的位点。基于这些数据,我们推测在两个不同位点的改变是家族性WT病因中的关键限速步骤。

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