FUT2基因单核苷酸位点多态性与母乳中性寡糖水平关联性研究

摘要

Objective To investigate the.concentration of human milk neutral oligosaccharides 2 weeks after birth and genetic sequence variation in gene FUT2.Oligosaccharides concentration was analyzed based on SNPs to explore the relationship between oligosaccharides differences and gene polymorphisms.Methods Term infants and their mothers who planned to give the infants at least 75％ breast milk in 3 months after delivery were included.Breast milk and saliva sample were collected at 2 week postpartum.Neutral oligosaccharides concentration of breast milk was analyzed by high performance liquid chromatography.Saliva sample was collected using Oragene Kit.DNA was extracted from saliva sample and used for SNP assay.Results One hundred and ten breastfeeding mother-infant pairs in Shanghai were recruited in this study, of them 78 mothers were taken human milk neutral oligosaccharides detection.According to the classification of the neutral oligosaccharides.Le( a - , b - ) accounted for 21.8％ ; Le( a - ,b + ) accounted for 51.3％ and Le( a+.b - ) accounted for 26.9％in breast milk.There were three genotypes of SNP ( rs1047781 ) i.e.AA.AT and TT ( 26.7％ , 48.6％ and 24.8％ respectively ).Sixty mothers were taken the detection of human milk neutral oligosaccharides and SNP rs1047781 polymorphisms.The concentration of a1.2 linked oligosaccharides was significantly different among the three groups.Conclusions The distribution of Lewis phenotype according to the classification of the neutral oligosaccharides matches with the distribution of general population in China.It is the important regulating spot of al ,2 linked oligosaccharides concentration in Chinese mothers' breast milk.%目的 检测产后2周母乳中性寡糖水平,并分析母亲FUT2基因SNP位点rs1047781多态性与母乳中性寡糖水平的关系.方法 选取健康足月儿及计划产后3个月内至少75%以母乳喂养婴儿的母亲为研究对象.产后2周收集母乳及母亲唾液.采用已验证的高效液相色谱分析法检测母乳9种中性寡糖水平,计算其中3种α1,2连接岩藻糖基寡糖的总水平.采用基因测序法进行SNP位点rs1047781多态性的检测.结果 2008年3～12月在上海国际和平妇婴保健院产科住院的健康母亲110名进入研究.78/110名进行了母乳中性寡糖水平检测.根据母乳中性寡糖水平分类,母亲的Lewis表型中Le(a-,b-)占21.8%(17名),Le(a-,b+)占51.3%(40名),Le(a+,b-)占26.9%(21名).105名母亲的唾液样本成功提取DNA,进行了SNP位点rs1047781多态性检测.SNP位点rs1047781基因型 AA、AT和TT频率分别为26.7%(28名)、48.6%(51名)和24.8%(26名).60名母亲同时进行了母乳中性寡糖水平和SNP位点rs1047781多态性检测,3种基因型母亲母乳中α1,2连接岩藻糖基寡糖水平差异有统计学意义(P<0.01).结论母乳中性寡糖Lewis表型与Lewis血型在中国人群分布相似.母亲FUT2的SNP位点rs1047781存在基因多态性,是中国母乳ɑ1,2连接的岩藻糖基寡糖的关键控制位点.