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目的为病因学研究中MAFB基因单核苷酸变异(SNV)研究位点的确定提供依据。方法利用Haploview软件和千人基因组计划提供的遗传学数据,对MAFB基因单核苷酸多态(SNP)位点的最小等位基因频率(MAF)、单体域及单体型进行分析。结果千人基因组计划在MAFB基因编码区及3’和5’端之间共测定了3196个SNV位点。位于基因3’端39255548与39282720间的106个SNVs中,81个MAF>1且符合Hardy-Weinberg平衡,其中27个与其它SNP间r2=1。其余54个SNPs中,MAF位于0.01-和0.45-组段者所占比例最高,分别为35.19和27.78。54个SNPs所形成的5个单体域均以频率最高的2种单体型为主,累计频率为73.7~98.9。结论千人基因组计划比illumina 610芯片提供了更丰富的SNPs遗传标记,检出并避免利用无效或低效SNPs进行关联研究,可提高研究的把握度和效率。
Objective To provide a basis for the determination of sites of single nucleotide variation (SNV) of MAFB gene in etiological studies. Methods The allele frequencies (MAFs), haplotypes and haplotypes of single nucleotide polymorphism (SNP) sites in MAFB gene were analyzed using genetic data provided by Haploview software and Thousands Genome Project. Results The Thousands Genome Project sequenced a total of 3196 SNV sites between the MAFB gene coding region and the 3 ’and 5’ ends. Among the 106 SNVs located between the 3 ’end of the gene 39255548 and 39282720, 81 MAFs> 1 and were in line with the Hardy-Weinberg equilibrium, of which 27 were r2 = 1 with other SNPs. Among the remaining 54 SNPs, the highest proportion of MAF was located in 0.01- and 0.45-segment, respectively. The five haplotypes formed by 35.19 and 27.78.54 SNPs were dominated by the two haplotypes with the highest frequency , The cumulative frequency of 73.7 ~ 98.9. Conclusion The Thousand Genome Project provides richer genetic markers for SNPs than the Illumina 610 chip. Detection and avoidance of association studies using invalid or inefficient SNPs can increase the study’s power and efficiency.