Simms L A, Algar E M, Smith P J
Department of Pathology, University of Queensland Medical School, Brisbane, Australia.
Eur J Cancer. 1995 Dec;31A(13-14):2270-6. doi: 10.1016/0959-8049(95)00474-2.
Using a reverse transcriptase polymerase chain reaction to examine alternate splicing at site I (exon 5) and site II (exon 9) in the Wilms' tumour suppressor gene, WT1, we found that in seven of the 10 Wilms' tumours examined, splicing at site I was disrupted. This is predicted to result in isoform imbalance in Wilms' tumours, with an increase in isoforms in which the 17 amino acids encoded by exon 5 are missing. These observations could not be explained by mutations or rearrangements in flanking introns. Disrupted alternate splicing of exon 5 may play a role in the aetiology of Wilms' tumour.
利用逆转录聚合酶链反应检测威尔姆斯瘤抑癌基因WT1中I位点（外显子5）和II位点（外显子9）的可变剪接，我们发现在所检测的10例威尔姆斯瘤中，有7例I位点的剪接受阻。这预计会导致威尔姆斯瘤中异构体失衡，即外显子5编码的17个氨基酸缺失的异构体增加。这些观察结果无法用侧翼内含子的突变或重排来解释。外显子5可变剪接的破坏可能在威尔姆斯瘤的病因学中起作用。
