目的 研究通化地区朝鲜族人群29个Y-STR(Y chromosomal short tandem repeats,Y-STR)基因座的遗传多态性及其与国内其他民族群体的遗传关系.方法 采用DNATyperTMY29荧光复合扩增检测试剂盒,检测539名通化地区朝鲜族无关个体29个Y-STR基因座的DNA分型,计算基因频率等群体遗传学数据,与13个其他民族群体进行遗传距离比较分析.结果 通化地区539名朝鲜族个体观察到228个基因和531种单倍型;单倍型多态性(haplotype diversity,HD)值为0.999940;基因多态性(gene diversity,GD)值在0.3138(DYS391)到0.9656(DYS385ab)之间;匹配概率(matching probability,MP)0.001917,系统鉴别能力(discrimination capacity,DC)值0.985158.通化朝鲜族和首尔韩民族(亦称朝鲜族)人群的亲缘关系最近,与吉林满族人群的亲缘关系最远.结论 所测29个Y-STR基因座在通化地区具有较好的多态性分布,本研究所得基因频率、多态性等数据,可为该地区的群体遗传学和法医学研究与应用提供基础数据参考.

研究赣南地区汉族人群29个Y-STR基因座的遗传多态性以及与国内多个民族群体的遗传关系,探讨其在群体遗传学和法医学中的实际应用价值.采用DNATyperTM Y29试剂盒对1532例赣南地区健康男性无关个体进行Y-STR基因座扩增,3730型遗传分析仪进行毛细管电泳检测,运用GeneMapper IDX1.4软件对数据结果进行Y-STR分型,计算29个Y-STR基因座的等位基因频率及单倍型频率等遗传学参数.应用Mega-X软件对选取的群体构建进化树,用YHRD在线工具软件的分子方差分析(AMOVA),计算群体间遗传距离,同时构建多维尺度图(MDS).经分析,29个Y-STR基因座在赣南汉族人群中的基因多样性(GD)值范围为0.3815～0.8766,除了DYS508、DYS437、DYS391和DYS438基因座外,其余25个基因座GD值均高于0.5,且单倍型多样性为0.999924,表明29个Y-STR基因座在赣南汉族人群中有较高的遗传多态性.与其他地区汉族人群比较,赣南汉族与福建汉族遗传距离最近(遗传距离Rst值是0.0002),与黑龙江汉族遗传距离最远(Rst值是0.0249);与其他地区少数民族人群比较,赣南汉族与云南白族遗传距离最近(Rst值是0.0059),与甘孜藏族遗传距离最远(Rst值是0.4689).研究表明,这29个Y-STR基因座在赣南汉族人群中具有较好的遗传多态性分布,能够满足家系排查及法医学检案的要求,所得的数据可为该地区的群体遗传学和法医学研究与应用提供基础数据支持.

Leshan is a prefecture-level city located at the confluence of the Dadu and Min rivers in Sichuan Province, China (Fig. S1). At the 2010 census, its population was 3,235,759.

In the present study, blood samples of 984 unrelated Han individuals were collected from Dongfang, Southern China, after informed consent. A total of 29 Y-chromosomal short tandem repeat (Y-STR) were analyzed, including DYF387S1, DYS19, DYS385ab, DYS389I, DYS389II, DYS390, DYS391, DYS392, DYS393, DYS437, DYS438, DYS439, DYS444, DYS447, DYS448, DYS449, DYS456, DYS458, DYS460, DYS481, DYS508, DYS518, DYS533, DYS576, DYS635, DYS643 and GATAH4. A total of 749 different haplotypes were found among 984 individuals, of which 645 were unique. The haplotype diversity was 0.9988 and the discrimination capacity was 0.7612, while the match probability was 0.0025. The smallest genetic distance (RST = 0.0155) was found between the Dongfang Han population and Guizhou Han population, while the largest genetic distance (RST = 0.1284) was observed with Gansu Tibetan.

OBJECTIVE:To establish a 15-plex rapid STR multiplex amplification system.METHODS:Fourteen auto-chromosome loci and one sex-chromosome were selected to compare the situations of allelic losses and nonspecific amplication under different conditions. FastStart Taq DNA polymerase and DNA standard sample 9947A were used during amplification and optimization process.15-plex rapid STR amplification system was achieved by performing various experiments including selection of amplification conditions and the volume of DNA polymerase, adjustment of inter-locus balance, optimization of rapid amplification, screening of reaction buffers, selection of reaction volume, and a variety of additives.RESULTS:Using 10 μL rapid PCR system, including 1 ng DNA templates, 0.4 μL polymerase and 10xFastStart high fidelity reaction buffer, a complete and well-balance DNA profile of 15 STR loci for standard genomic DNA was obtained in 32 minutes, without the allele drop-out and non-specific amplicons. Meanwhile, 5% glycerinum, 0.01% gelatin, 0.05% gelatin and 5 mmol/L ammonium sulfate could be used as the reactive additive during the amplification procedure.CONCLUSION:The 15-plex rapid STR multiplex amplification system can be used to decrease reaction time and enhance sample throughput.