论文部分内容阅读
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 analyze the single nucleotide polymorphisms (SNPs) of two gene fragments of CD177 gene in Fujian Han population, including 1-3 and 7,8 exons. Methods Peripheral blood genomic DNA was extracted from 112 healthy Han nationality in Fujian province. Two genes including exon 1-3 of CD177 gene and exon 7 and exon 8 were amplified respectively. The two genes were detected by direct sequencing (SNP), and do Hardy-Weinberg equilibrium test, allele linkage disequilibrium analysis and the difference between this group of people and other regions of the genetic frequency of the population. Results A total of 9 SNP loci were found in the two gene fragments of CD177, including SNP c.42G> C located in exon 1 and located at 5 sites of exon 7 (c.824G> C, c. 828A> C, c.829A> T, c.832G> A and c.841A> G), and three SNPs in intron. The frequency distribution of 9 SNP sites was in line with HW balance, (R2 = 1). Compared with the European population, Japanese population, Beijing population of China and southern China population in the “Thousand Genome Project” database, seven SNPs of CD177 in Fujian Han population The frequencies of the loci (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%, AA2.68%, rs371812801: CC97.32%, CG2.68%, GG0) were significantly different from those in European population (P <0.05). In addition, SNP c.829A> The frequency of T gene in Fujian population (allele frequency A 68.30%, T 31.70%, genotype frequency AA 39.29%, AT 58.03%, TT 2.68%) and South China Compared with Han Han population, the difference was significant (P <0.05). Conclusions The frequency distribution of 9 SNPs of CD177 gene in Fujian Han population was clarified or the disease associated with CD177 SNPs was studied.