【摘要】 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。更多还原

【Abstract】 Objective To explore the single nucleotide polymorphisms (SNPs) and point mutations of ataxia telangiectasia mutated ( ATM ) gene in Chinese of Han ethnicity. Methods The target fragments of the exon 39, exon 61 and exon 63 of ATM gene were first amplified using PCR technique, then screened for the SNPs and point mutations using single strand conformation polymorphism (SSCP) technique, finally the representive bands were sequenced for the verification of the new single neocleotide polymorphisms and point mutations using the automatic DNA sequencing technique. Results Six new SNPs were found in the exon 39, intron 61 and intron 63 of ATM gene. They are respectively the A/T polymorphisms at nucleotide 5689 and 5691 in exon 39,the T/G polymorphisms at nucleotide +69 and +99, the A/G polymorphism at nucleotide +94 in intron 61,the G/C polymorphism at nucleotide +17 in intron 63. Five new point mutations were found in the exon 61, intron 62 and exon 63 of ATM gene. They are respectively the T/G transversion at nucleotide 8618 in exon 61, the T/G transversion at nucleotide -13 in intron 62, the T/G transversion at nucleotide 8793, the G/A transitions at nucleotide 8816 and 8848 in exon 63. The known three SNPs, the G/A polymorphism at nucleotide 5557 in exon 39, the T/C polymorphism at nucleotide +104 in intron 61 and the T/C polymorphism at nucleotide -55 in intron 62, were verified in Chinese of Han ethnicity. Conclusion There are great differences in the SNPs of ATM gene between Chinese of Han ethnicity and Caucasian.更多还原