论文部分内容阅读
目的研究中国汉族人共济失调性毛细血管扩张症(ataxiatelangiectasiamutated,ATM)基因的单核苷酸多态和点突变。方法首先用PCR扩增ATM基因第39、61和63外显子的靶片段,然后用单链构象多态性(singlestrandconformationpolymorphism,SSCP)技术进行筛选,选择典型带型经全自动DNA测序证实。结果在ATM基因第39外显子以及第61和63内含子发现6个新的单核苷酸多态,它们分别是第39外显子第5689位和第5691位的A/T多态,第61内含子第+69位的T/G多态、第+94位的A/G多态和第+99位的T/G多态,第63内含子第+17位的G/C多态。在ATM基因第61外显子、第62内含子和第63外显子发现5个新的点突变,它们分别是第61外显子第8618位的T/G颠换、第62内含子第-13位的T/G颠换、第63外显子第8793位的T/G颠换、第8816位和第8848位的G/A转换。证实了ATM基因第39外显子第5557位G/A、第61内含子第+104位T/C和第62内含子第-55位T/C多态在中国汉族人中的存在。结论中国汉族人ATM基因的单核苷酸多态与白人存在较大差异。
Objective To study single nucleotide polymorphisms and point mutations of ataxiate langiectasiamutated (ATM) gene in Chinese Han population. Methods The target fragments of exons 39, 61 and 63 of ATM gene were amplified by PCR and then screened by single strand conformation polymorphism (SSCP). The typical bands were confirmed by automatic DNA sequencing. RESULTS: Six new single nucleotide polymorphisms (SNPs) were found in exon 39 of exon 39 and in introns 61 and 63, respectively, which were A / T polymorphisms at 5689 and 5691 of exon 39 , T / G polymorphism at the +69th intron 61, A / G polymorphism at +94 and T / G polymorphism at the +99th, G at the +17th in the 63rd intron / C polymorphism. Five new point mutations were found in exon 61, 62nd intron and 63nd exon of ATM gene, which were T / G transversion at exon 61 of exon 61, 62nd introns T / G transversion at sub-13th, T / G transversion at 8793th at exon 63, G / A conversion at 8816th and 8848th. Confirmed the existence of the 55th G / A exon 39 in exon 39, the +104th T / C in intron 61 and the -55th T / C polymorphism in intron 62 in Chinese Han population . Conclusion Single nucleotide polymorphisms of ATM gene in Chinese Han people are quite different from that in white people.