Santos A, Osorio-Almeida L, Baird P N, Silva J M, Boavida M G, Cowell J
Laboratorio de Genetica Molecular, Faculdade de Ciencias e Tecnologia, Universidade Nova de Lisboa, Monte Caparica, Portugal.
Hum Genet. 1993 Aug;92(1):83-6. doi: 10.1007/BF00216151.
The WT1 gene was analysed using DNA from a Wilms' tumour derived from a patient with the WAGR syndrome using single strand conformation polymorphism analysis and polymerase chain reaction sequencing. A 14-bp insertion was found in the intron part of the splice donor site of exon 7 and was a tandem duplication of an upstream exon sequence. This mutation would be expected to disrupt the correct processing of the WT1 mRNA and is predicted to result in a non-functional protein. This observation further supports the role of WT1 in Wilms' tumorigenesis in patients with constitutional 11p13 deletions.
使用单链构象多态性分析和聚合酶链反应测序，对一名患有WAGR综合征患者的肾母细胞瘤来源的DNA进行WT1基因分析。在外显子7剪接供体位点的内含子部分发现了一个14碱基对的插入，它是上游外显子序列的串联重复。预计该突变会破坏WT1 mRNA的正确加工，并预计会导致产生无功能的蛋白质。这一观察结果进一步支持了WT1在患有11p13遗传性缺失的患者肾母细胞瘤发生中的作用。
