甘肃250名汉族人甘露糖结合凝集素基因多态性分析

摘要

Objective:To analyse mannan-binding lectin (MBL) gene polymorphisms of Han nationality in Gansu province in order to further research about relationship of MBL gene mutation and diseases . Methods: Three polymorphic loci in MBL of 250 healthy Chinese Han individuals from Gansu province were analyzed by PCR-SSP in which the genotype and allele frequency of MBL in different Han population from China were compared . Results: We only found the A and B allele . The genotype frequencies of MBL gene were 74.80%(GGC/GGC),22.00%(GGC/GAC) and 3.20%(GAC/GAC).The allele frequencies of MBL gene were 0.858 (GGC),0.142(GAC). Conclusion: The distribution of polymorphism in MBL gene is consistent with the Hardy-Weinberg equilibrium which is significantly different among the Han population of others areas .%目的：分析甘肃汉族人群中甘露糖结合凝集素（MBL）基因多态性，为研究MBL基因突变与疾病间的相关性提供依据。方法：应用序列特异性引物PCR法（PCR-SSP）方法分析250名甘肃无血缘关系的汉族健康人员的MBL 第一外显子（EXON I）52、54、57位基因型。结果：在甘肃地区汉族人群MBL基因EXON I的52、57位没有检测出突变体，MBL基因的54位基因型频率分别是GGC/GGC为74.80％， GGC/GAC为22.00％，GAC/GAC为3.20％，基因频率GGC为0.858，GAC为0.142。结论：甘肃汉族MBL基因多态性符合Hardy-Weinberg平衡定律，具有群体代表性，与其它地区汉族人群相比较有一定的差异。