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目的研究中国Denys-Drash综合征(DDS)患者Wilms瘤基因1(WT1)的基因突变。方法应用PCR方法扩增出WT1基因全部10个外显子及其相邻内含子序列,经纯化后进行PCR产物直接测序。结果2例患者WT1基因分别存在1个杂合错义突变。例1的X外显子9第1180位碱基C-→T突变,造成第394位精氨酸改变为色氨酸,即p．R394W(c．1180C> T)。例号2的S外显子9第1203位碱基C→A突变,造成第401位组氨酸改变为谷氨酰胺,即p．H401Q(c．1203C>A)。其中第1203位碱基C→A突变,p．H401Q(c．1203C>A),在国内外文献及突变数据库中均未见报道,属新发现的突变。结论DDS综合征WT1基因中外显子9为突变热点,并发现一种新的WT1基因突变。
Objective To investigate the gene mutation of Wilms tumor gene 1 (WT1) in Chinese patients with Denys-Drash syndrome (DDS). Methods All ten exons of WT1 gene and their adjacent intron sequences were amplified by PCR. After purification, PCR products were directly sequenced. Results There was one heterozygous missense mutation in WT1 gene in two patients. The C → T mutation at base 1180 of X exon 9 of Example 1 resulted in a change of arginine at position 394 to tryptophan, ie, p. R394W (c.1180C> T). Case No. 2 S exon 9 1203th base C → A mutation, resulting in his 401st histidine changed to glutamine, that p. H401Q (c.1203C> A). Among them, the 1203th base C → A mutation, p. H401Q (c.1203C> A), which has not been reported in domestic and foreign literature and mutation database, is a newly discovered mutation. Conclusion Exon 9 in WT1 gene of DDS syndrome is a hot spot of mutation, and a novel WT1 gene mutation was found.