中国蒙古族人MBL基因启动子区SNP的研究

Investigation of single nucleotide polymorphisms in the promoter region of mannan-binding lectin gene in a Mongolian population from China

目的 研究中国蒙古族人群甘露聚糖结合凝集素 (MBL)基因启动子区单核苷酸多态性 (SNP)。方法 抽提人外周血白细胞基因组DNA ,建立SSP PCR及分子灯塔实时荧光PCR技术 ,检测MBL基因启动子区SNP位点 - 5 5 0 (G C ,称H L等位基因 )、- 2 2 0 (G C ,X Y等位基因 )和 +4(C T ,P Q等位基因 ) ,分析其单倍型及基因型频率。结果 从 82人中检出等位基因型LYP LYP 4例 (4 .9% ) ,HYP LYQ 5例 (6 .1% ) ,LYP LYQ 35例 (4 2 .9% ) ,LXP LXP 1例 (1.2 % ) ,LYQ LYQ 11例 (13.4 % ) ,LXP LYQ 14例 (17.1% ) ,HYP LYP 2例 (2 .4 % ) ,HYP LXP 1例 (1.2 % ) ,HYP HYP 9例 (11.0 % )。结论 中国蒙古族人群MBL基因启动子区SNP等位基因型以LYP LYQ、LXP LYQ、LYQ LYQ和HYP

Objective To investigate the single nucleotide polymorphisms(SNP) in the promoter region of mannan-binding lec- tin(MBL) gene in a Mongolian population. Methods Eighty-two blood samples were obtained from a Mongolian population from Inner Mongolia Autonomous Region, genomic DNA was isolated from leucocytes,polymorphism alleles -550(G/C, named H/L alleles), -220(G/C, X/Y alleles) and+4(C/T, P/Q alleles) in the promoter region of MBL gene were detected by polymerase chain reaction(PCR) with sequence-specific primers and PCR-molecular beacon real-time monitoring, and the frequencies of haplotypes and genotypes were analyzed. Results Out of the total of 82 samples, the frequencies of several genotypes were: LYP/LYP, 4 (4.9%) ;HYP/LYQ, 5 (6.1%); LYP/LYQ, 35 (42.9%); LXP/LXP, 1 (1.2%); LYQ/LYQ, 11 (13.4%); LXP/LYQ, 14 (17.1%) ; HYP/LYP, 2 (2.4%); HYP/LXP, 1 (1.2%); HYP/HYP, 9 (11.0%).Conclusion The polymorphism genotypes in the promoter region of MBL gene in Mongolia population from Inner Mongolia Auto- nomous Region are mostly LYP/LYQ, LXP/LYQ, LYQ/LYQ and HYP/HYP.