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目的研究Alport综合征(AS)致病基因COL4A5突变情况。方法收集并抽提2005年上海地区AS患者及其所有家庭成员29例的基因组DNA,并根据致病基因设计相关引物,分别检测患者和100个正常人血液DNA以及患者皮肤的cDNA碱基序列。结果发现AS基因组DNA的COL4A5基因c.609+5G>A高度保守区存在5G>A突变,而100个正常人均无该突变,该位点尚未见文献报道;同时发现患者COL4A5基因mRNA不能正常翻译。而COL4A5基因已报道的位点,并未在本家系中发现。结论 AS患者c.609+5G高度保守存在5G>A突变,证实该变异可能使COL4A5基因剪接发生错误而导致基因mRNA不能正常翻译。
Objective To study the mutation of COL4A5 gene in Alport syndrome (AS). Methods The genomic DNAs of 29 AS patients and all their family members in Shanghai area in 2005 were collected and extracted. According to the pathogenicity-related genes, primers were designed to detect the cDNA sequence of blood DNA of patients and 100 normal persons and the skin of patients. The results showed that there was a 5G> A mutation in the c.609 + 5G> A highly conserved region of COL4A5 gene in AS genomic DNA, but no mutation was found in 100 normal individuals. This gene has not been reported in the literature; meanwhile, COL4A5 mRNA was not translated . The sites reported by COL4A5 have not been found in this family. Conclusions There is a highly conserved 5G> A mutation in c.609 + 5G in patients with AS, which confirms that the mutation might result in miscoding of COL4A5 gene resulting in abnormal translation of gene mRNA.