摘要
目的分析福建汉族人群CD177基因中包含1-3及7、8外显子的2个基因片段的单核苷酸多态性。方法提取112例福建汉族人群健康体检者的外周血基因组DNA,分别扩增包含CD177基因的1-3外显子及7、8外显子的2个基因片段,直接测序法检测该2个基因片段的单核苷酸多态性(SNP),并做Hardy-Weinberg平衡检验、等位基因连锁不平衡分析以及本组人群与其他地区人群之间基因频率的差异比较。结果 CD177的2个基因片段内共检测到9个SNP位点,包括位于外显子1的SNP c.42G>C,位于外显子7的5个位点(c.824G>C、c.828A>C、c.829A>T、c.832G>A及c.841A>G)以及位于内含子的3个SNP;9个SNP位点的基因频率分布均符合H-W平衡,第7外显子的5个SNP呈完全连锁不平衡(r2=1);与"千人基因组计划"数据库中的欧洲人群、日本人群及中国北京人群和南方人群比较,福建汉族人群CD177的7个SNP位点基因频率(c.42G>C:GG 4.46%,GC 47.32%、CC48.22%,rs4803613:GG 4.46%、AG 44.64%、AA 50.89%,c.824G>C:GG 39.29%、GC 58.03%、CC 2.68%,c.828A>C:AA 39.29%、AC 58.03%、CC 2.68%,c.829A>T:AA 39.29%、AT 58.03%、TT 2.68%,c.832G>A:GG 39.29%、AG58.03%、AA 2.68%,rs371812801:CC 97.32%、CG 2.68%、GG 0)与欧洲人群的差异较大(P<0.05);此外,与CD177表达密切相关的SNP c.829A>T的基因频率在福建人群中的分布(等位基因频率A 68.30%、T 31.70%,基因型频率AA 39.29%、AT 58.03%、TT 2.68%)与中国南方汉族人群相比差异明显(P<0.05)。结论弄清了福建汉族人群CD177基因9个SNP位点的基因频率分布特征,或有助于CD177 SNPs相关的疾病研究。
Objective To investigate the single nucleotide polymorphisms of CD177 gene encompassing exon 1 to 3 and exon 7,8 in Chinese Han population from Fujian. Methods Genomic DNA was isolated from peripheral blood ceils of 112 healthy individuals.The two gene fragments were amplified by PCR and the amplified products were sequenced to confirm CD177 SNPs. Deviations from Hardy-Weinberg equilibrium were tested and pairwise linkage disequilibrium between SNPs was calculated. SNPs frequencies were compared between this sample population and other populations. Results 9 SNPs , including SNP c. 42G〉C in exonl, SNP c. 824G〉C,c. 828A〉C,c. 829A〉T ,c. 832G〉A and c. 841A〉G in exon 7 and 3 SNPs in intron, were detected, Frequencies of 9 SNPs were in accordance with Hardy-Weinberg equilibrium.The 5 SNPs in exon 7 were in complete linkage disequilibrium（ r2 = 1 ）. The genotype frequencies of SNP c. 42G〉C , rs4803613, c. 824G〉C, e. 828A〉C ,e. 829A〉T,c. 832G〉A and rs371812801 were GG 4. 46% ,GC 47. 32% ,CC 48. 22% ;GG 4. 46% ,AG 44. 64%, AA 50. 89% ; GG 39. 29%, GC 58.03%, CC 2. 68% ; AA 39. 29%, AC 58. 03%, CC 2. 68% ; AA 39. 29%, AT 58.03%, TF 2. 68% ; GG 39. 29%,AG 58. 03%, AA 2. 68% and CC 97. 32%, CG 2. 68%, GG 0, respectively. Compared with the allele and genotype frequencies obtained from 1 000 Genomes Project database, statistically significant differences were found in the frequencies of the 7 SNPs between Utah population with North and Western European ancestry（CEU） and this sample popu- lation（P〈 0. 05）. In addition , the frequencies of SNP c. 829A〉T （ A 68. 30%, T 31.70% ; AA39. 29%, AT 58.03%, TY 2.68%） ,which is regarded as a determinant for CD177 expression, were Significantly different between Southern Han Chi- nese（CHS） population and this sample population （P〈0.05）. Conclusion The distribution profile of 9 SNPs in CD177 gene in Chinese Han population from Fujian may contribute to the further studies on the association of SNPs in CD177 gene with diseases.
出处
《中国输血杂志》
CAS
北大核心
2016年第12期1318-1322,共5页
Chinese Journal of Blood Transfusion
基金
国家临床重点专科建设资助项目[国卫办医函(2013)544号]
关键词
CDl77基因
人类粒细胞抗原
多态性
单核苷酸
福建汉族
Key words：CD177 gene, human neutrophil antigen, polymorphism, single nucleotide, Chinese Han population fronFujian
