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目的研究105例太原市中心医院体检正常汉族志愿者常染色体显性遗传多囊肾病PKD2基因单核苷酸多态性(SNP)分布情况。方法 NCBI检索已报道的PKD2所有外显子SNP分布情况;通过DNAMAN软件分析,选择存在限制性酶切位点的6个SNP;PCR扩增酶切位点所在的外显子、酶切,酶切异常者进行测序。结果 105例太原市健康人群共检测出1个SNP,位于外显子6的1420位,A/G型基因频率为11.43%,A/A型基因频率为88.57%。其余SNP位点均未检出。结论太原市汉族PKD2中的SNP特点及分布与国外报道有所差异。
Objective To investigate the distribution of single nucleotide polymorphisms (SNPs) of PKD2 in autosomal dominant polycystic kidney disease in 105 normal Han Chinese volunteers from the Central Hospital of Taiyuan. Methods The distribution of SNPs of all exons of PKD2 was detected by NCBI. Six SNPs with restriction sites were selected by DNAMAN software analysis. The exon, restriction enzyme, enzyme, Abnormal persons were sequenced. Results One SNP was detected in 105 cases of healthy people in Taiyuan, located at 1420 of exon 6, the frequency of A / G gene was 11.43%, and the frequency of A / A gene was 88.57%. The remaining SNPs were not detected. Conclusion The characteristics and distribution of SNP in PKD2 in Han nationality in Taiyuan are different from those reported in foreign countries.