汉族儿童MBL基因启动子-221位点、外显子I区SNP和基因单体型分析

The single nucleotide polymorphism at-221 site in promoter region and at +230 site in exon I regions of mannose binding lectin gene from Hans children and its haplotype analysis

研究浙江省汉族儿童MBL基因启动子-221位点和外显子I区单核苷酸多态性(SNP)、基因单体型与血浆MBL水平的关系。血浆MBL浓度的检测采用ELISA法,MBL基因SNP分析采用序列分析法,基因单体型分析采用SHEsis软件,统计分析采用SPSS软件11.0版。结果105例汉族儿童中MBL基因启动子区-221位点X/Y和Y/Y基因型分别占19%和81%,该位点变异频率为0.095;外显子I基因型A/A、A/B和B/B分别占69.5%、27.6%和2.9%,B型变异频率为0.167。基因单体型有YA、YB、XA三种,其中以YA最多见,频率为0.741,其次是YB,频率为0.164。血浆MBL浓度范围为3~6 025 ng/ml,中位数为1057 ng/ml,外显子A/A型的MBL浓度显著高于A/B型,后者又显著高于B/B型;而启动子Y/Y型的MBL浓度比X/Y型高。本研究中汉族儿童MBL基因外显子I区+230位点的变异频率为0.167,外显子I区+230位点变异可导致血浆MBL水平明显下降。

To investigate the relatioship of the single nucleotide polymorphism(SNP) at-221 site in promoter and exon I regions of mannose binding lectin(MBL) and the haplotypes with MBL level in plasma,the MBL concentration in plasma was measured by ELISA with human MBL-ELISA kit;the SNP for MBL gene was analyzed with non-parametric test in statistics package for social science(SPSS),version 11.0 and the SHEsis software was adopted for the SNP analysis.It was found that in 105 Hans children,the frequencies of genotyp...