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目的对中国北方汉族人群FUT6基因编码区序列特征及等位基因多态性进行调查。方法测序分析30例中国北方汉族人FUT6基因整个编码区序列并鉴定其单倍型,采用复合PCR与复合限制性内切酶结合的RFLP法分析FUT6基因rs778805(C370T)、G855A及rs61147939(C907G)3个SNPs遗传多态性;应用Haploview4.1软件进行相关统计分析。结果 30例测序样本中共检出8个SNPs和6种单倍型,149例中国北方汉族个体C370T、G855A、C907G基因型分布均符合Hardy-Weinberg平衡。杂合度分别为0.544、0.416、0.510;多态信息含量为0.375、0.372、0.367;个人识别能力为0.600、0.651、0.603;非父排除率为0.187、0.186、0.183。PCR-RFLPs检出13种基因型,单倍型变异度为0.646。Haploview4.1软件分析表明3个SNPs处于连锁不平衡状态。结论中国北方汉族人群FUT6基因编码区序列呈现出高度多态性;C370T、G855A、C907G位点多态性分布良好,但处于连锁不平衡状态。
Objective To investigate the sequence characteristics and allelic polymorphism of FUT6 gene in Han population of northern China. Methods FUT6 gene rs778805 (C370T), G855A and rs61147939 (C907G) were analyzed by sequencing and analyzing the haplotypes of the entire coding region of FUT6 gene from 30 Han Chinese population in northern China. RFLP analysis was performed using multiplex PCR and restriction enzyme analysis. 3 SNPs genetic polymorphism; application Haploview4.1 software for statistical analysis. Results Eight SNPs and six haplotypes were detected in 30 samples. The distribution of C370T, G855A and C907G genotypes in 149 Chinese northern Han nationalities were in accordance with Hardy-Weinberg equilibrium. The heterozygosity was 0.544, 0.416 and 0.510 respectively. The polymorphic information content was 0.375,0.372,0.367. The personal identification ability was 0.600,0.651,0.603. The non-parent exclusion rate was 0.187,0.186,0.183. PCR-RFLPs detected 13 genotypes, the haplotype variation was 0.646. Haploview 4.1 software analysis showed that the three SNPs were in linkage disequilibrium. Conclusion The coding region of FUT6 gene in Han population of northern China shows a high degree of polymorphism. The polymorphisms of C370T, G855A and C907G are well distributed but in a disequilibrium state.