中国白族人群MBL基因SNP及其单倍型与基因型的研究

目的：研究中国云南白族人甘露聚糖结合凝集素（MBL）基因单核苷酸多态性（SNP）及其单倍型与基因型。方法：对MBL基因启动子区SNP位点-550G／C（称H／L等位基因）、-221C／G（X／Y）、＋4C／T（P／Q）已明确的白族DNA样本，采用序列特异性引物．多聚酶链反应技术检测结构基因第一外显子点突变CGT52TGT、CCC54GAC和CCA57CAA（分别称为D、B、C等位基因，野生型即A），并分析MBL基因的单倍型与基因型。结果：只检出GGC54GAC点突变，其频率为0．100；检出的5种单倍型及其频率是：HYPA0．250、LXPA0．107、LYQA0．407、LYPA0．135、LYPB0．100；各基因型及其频率为：LYPA／LYPA0．043、LXPA／LYQA0．143、LYPA／LYPB0．014、HYPA／LYQA0．086、LYPA／LYQA0．157、HYPA／LYPA0．014、LYPB／LYQA0．143、HYPA／LYPB0．043、LXPA／LXPA0．014、HYPA／LXPA0．043、LYQA／LYQA0．143、HYPA／HYPA0．157。结论：中国白族人群MBL基因存在GGC54GAC点突变，单倍型以LYQA和HYPA为主，基因型则多见LYPA／LYQA、HYPA／HYPA、LX—PA／LYQA、LYPB／LYQA和LYQA／LYQA。

Investigation of single nucleotide polymorphisms, haplotypes and genotypes of mannan-binding lectin gene in Bai(Pai) nationality in China

Objective:To investigate the single nucleotide polymorphisms(SNP), haplotypes and genotypes of mannan-binding lectin(MBL) gene in the Bai(Pai) nationality from YunNan province, China.Methods:The three SNP sites CGT52TGT, GGC54GAC and GGA57GAA(named alleles D, B and C respectively, wildtype named A) in exon1 of MBL gene of 70 DNA samples of Bai nationality whose three SNP sites, -550G/C, -221C/G and +4C/T(named alleles H/L, X/Y and P/Q respectively), in promoter region of MBL gene had been clear, haplotypes and genotypes of MBL genes were detected and analyzed by sequence specific primer-polymerase chain reaction.Results:It was found that in Bais population, the frequency of alleles B was 0.100, there only were five haplotypes, HYPA, LXPA, LYQA, LYPA and LYPB, whose frequencies were 0.250, 0.107, 0.407, 0.135 and 0.100 respectively, the frequencies of several genotypes were LYPA/LYPA 0.043, LXPA/LYQA 0.143, LYPA/LYPB 0.014, HYPA/LYQA 0.086, LYPA/ LYQA 0.157, HYPA/LYPA 0.014, LYPB/LYQA 0.143, HYPA/LYPB 0.043, LXPA/LXPA 0.014, HYPA/LXPA 0.043, LYQA/LYQA 0.143 and HYPA/HYPA 0.157.Conclusion:In the MBL genes in Bais population, there is the allele B, the polymorphism haplotypes are mostly LYQA and HYPA, and the genotypes, LYPA/LYQA, HYPA/HYPA, LXPA/LYQA, LYPB/LYQA and LYQA/LYQA.