中国维吾尔族人群MBL基因启动子及第一外显子区SNP及其单倍型与基因型研究

收集新疆维吾尔族自治区维吾尔族一般人群血标本,提取白细胞基因组DNA,以序列特异性引物-多聚酶链反应技术检测其甘露聚糖结合凝集素(MBL)基因启动子区单核苷酸多态性位点-550G/C(称H/L等位基因)、-221C/G(X/Y)、+4C/T(P/Q)和结构基因第一外显子点突变CGT52TGT、GGC54GAC和GGA57GAA(分别称为D、B、C等位基因,野生型即A等位基因),并分析其单倍型与基因型。发现MBL基因启动子区等位基因主要为L、Y、P,第一外显子等位基因只发现B,未检出C和D;检出5种单倍型,其频率分别是HYPA 0.282、LYPA 0.268、LXPA 0.260、LYPB 0.120、LYQA 0.070。检出12种基因型,其频率分别为HYPA/HYPA 0.183、LXPA/LXPA 0.141、LYPA/LYQA 0.113、LYPA/LYPA 0.112、LYPA/LXPA 0.085、HYPA/LYPA 0.085、LXPA/LYPB 0.085、HYPA/LXPA 0.070、HYPA/LYPB 0.042、LYPA/LYPB 0.028、LYPB/LYQA 0.028、YPB/LYPB 0.028。

Single nucleotide polymorphisms,haplotypes and genotypes of mannan-binding lectin gene in the Uigur population

Blood samples of the Uigur population were collected from Xinjiang Uigur Autonomous Region and genomic DNA was extracted from leucocytes.Six important single nucleotide polymorphisms(SNP) strongly influencing the concentration of mannan binding lectin(MBL) in serum,located in the promoter region at positions-550(G/C),-221(C/G) and 4(C/T)(named alleles H/L,X/Y and P/Q respectively) and in the coding sequence of exon 1 at codon 52(CGT52TGT),codon 54(GGC54GAC) and codon 57(GGA57GAA)(named alleles D,B and C respectively,wild-type named A),of MBL gene were detected by sequence specific primer-polymerase chain reaction,and the haplotypes and genotypes analyzed.It was found that the alleles in the promoter region of MBL gene were mainly L,Y and P,and there were alleles B but no C and D in the coding sequence of exon 1.Only five haplotypes,HYPA,LXPA,LYQA,LYPA and LYPB,were found,whose frequencies were 0.282,0.260,0.070,0.268 and 0.120 respectively.The frequencies of 12 genotypes were HYPA/HYPA 0.183,LXPA/LXPA 0.141,LYPA/LYQA 0.113,LYPA/LYPA 0.112,LYPA/LXPA 0.085,HYPA/LYPA 0.085,LXPA/LYPB 0.085,HYPA/LXPA 0.070,HYPA/LYPB 0.042,LYPA/LYPB 0.028,LYPB/LYQA 0.028 and YPB/LYPB 0.028.