宁夏回族儿童MBL基因多态性及血浆MBL浓度分析

Gene polymorphisms and serum protein level of Mannose-binding lectin in Huis children in China.

【目的】了解宁夏回族健康儿童甘露糖结合凝集素基因mbl2外显子1区54密码子（＋230位点）和启动子区（-550,-221位点）的单核苷酸多态性（single nucleotide polymorphisms,SNP）,并分析其与血浆MBL浓度的关系。【方法】用ELISA法测血浆MBL含量。MBL基因多态性分析采用序列分析法。统计采用SPSS软件11.0版,遗传学分析采用SHEsis软件。【结果】在抽样的69例样本中,宁夏回族儿童MBL血浆浓度范围为0～5 220μg/L,中位数为1 909μg/L。序列分析显示,外显子1区＋230位点的等位基因突变频率0.268,等位基因分布符合Hardy-Weinberg平衡（χ^2=0.372,P=0.542）,无C型和D型外显子发现。外显子1的型别和MBL浓度关系是A/A型〉A/B型〉B/B型。启动子区-550和-221位点等位基因突变频率分别为0.413和0.123,等位基因分布均符合Hardy-Weinberg平衡。【结论】本研究回族人群中外显子1区（＋230位点）和启动子区（-550,-221位点）表现不同的基因多态性分布,外显子1区＋230位点基因变异明显影响血浆MBL浓度的表达。

[Objective] To analyze the single nucleotide polymorphisms （SNPs） at codon54 （＋230 site） in exon 1, -550 site and -221 site in promoter region, and analyze the association between these SNPs and plasma MBL concentration in Huis children in China. [Methods] MBL plasma concentrations were measured using ELISA method. SNPs of MBL gene were determined with sequence analysis method. The statistics package, SPSS11.0 was used in the study. Genetic analysis was performed with SHEsis software. [Results] The range of MBL levels was 0～5 220 μg/L and the median values was 1 909 μg/L in 69 Huis children. The results of sequence analysis showed that neihter C nor D type at exon 1 were found in the study, while the B yariant allele frequenciy at the codon 54 （＋230 site） of MBL gene was 0. 268, which was in good agreement with Hardy-Weinberg equilibrium（χ^2 =0. 372,P=0. 542）. The A/A structural genotype, expressed the higher plasma MBL concentration than in A/B genotype which expressed higher products than in B/B genotype. Variant allele frequencies at -550 site and -221 site of MBL gene were 0. 413 and 0. 123 respectively, which were in good agreement with Hardy-Weinberg equilibrium [Concluson] There are SNPs at ＋230 site in exon 1 and -550 site, -221 site in promoter region in MBL gene. The variant allele at ＋230 site in exon 1 affect the level of MBL plasma concentrations greatly.