厦门地区汉族人群15个STR基因座遗传多态性研究北大核心CSCD

目的调查福建厦门地区汉族群体15个短串联重复序列（short tandem repeat,STR）基因座多态性参数,同时评估AmpFLSTR Identifiler^TM体系应用于本地区汉族人群进行法医学个体识别及亲子鉴定的价值。方法应用AmpFLSTR Identifiler^TM体系荧光标记复合扩增系统,检测400名福建厦门地区汉族无关个体15个STR基因座的多态性,统计计算群体遗传学参数。结果15个STR基因座的基因型分布均符合Hardy-Weinberg平衡（P〉0．05）。15个STR遗传标记均具有高度多态性,杂合度0．580～0．868,匹配概率0．036～0．148,个体识别力0．798～0．967,多态性信息含量0．560～0．850,非父排除率0．268-0．730。结论15个STR基因座在福建厦门地区有较高的多态性。通过检测等位基因频率,为福建厦门地区人群法医学亲权鉴定和个人识别等位基因多样性提供了客观依据。     

中国汉族人群15个STR基因座遗传多态性研究及法医学应用

短串联重复序列(STRs)属微卫星DNA序列，重复单位为2-7bp。STR位点在人类基因组含量丰富，估计3～4核苷酸重复STR多态位点约有20万，平均每隔15～20kb就出现一个，是第二代遗传标记，已广泛应用于群体遗传学研究、亲权鉴定、个体识别，国内对Penta D和penta E两个基因座尚鲜见报道。     

广西金秀瑶族15个STR基因座遗传多态性

目的:了解广西金秀瑶族群体15个STR基因座的遗传多态性。方法:Chelex-100法提取样本DNA,荧光标记复合扩增基因座,ABIPrism(3100型遗传分析仪对扩增产物进行检测。结果:15个位点共检测出113种等位基因,基因频率分布在0.0029~0.5514;366种基因型,频率分布在0.0054~0.3657之间;符合Hardy-Weinberg平衡定律;杂合度(H)分布在0.5718~0.9286,个人识别力(DP)分布在0.7241~0.9601,累积个人识别力TDP为>0.9999999999,非父排除率(EP)在0.3658~0.8783,累积非父排除率CEP为0.999999998,多态信息量PIC分布在0.4953~0.8428。结论:广西金秀瑶族15个STR基因座除TPOX基因座外,其它基因座均属于高度多态性遗传标记。     

浙南畲族群体3个STR基因座遗传多态性研究

目的对浙南畲族群体的D18S865、D18S535和D18S1364三个短串联重复序列基因座的遗传多态性进行调查分析,获得相应多态性基因座的群体遗传学数据。方法从无血缘关系的110名浙南地区畲族个体的抗凝血中提取DNA,进行PCR扩增,聚丙烯酰胺凝胶垂直电泳（PAGE）并银染。结果D18S865、D18S535和D18S1364基因座的等位基因分别为6,9,11个,基因型分别为15,27,38种。基因型频率的分布符合Hardy-Weinberg平衡,三个基因座的观测杂合度分别为0.773、0.773、0.891,多态信息含量分别为0.730、0.800、0.850,三个基因座联合个人识别力为0.9998。结论所得到的等位基因频率数据可为浙南畲族人群法医个体识别,亲子鉴定及遗传学研究提供更多依据。     

浙江温州汉族人群D6S474等十八个短串联重复序列基因座的遗传多态性

目的 研究并分析来自浙江温州地区汉族人群的18个STR基因座(包括D6S474、D12ATA63、D22S1045、D1S1677、D11S4463、D1S1627、D3S4529、D6S1017、D4S2408、D17S1301、D1GATA113、D18S853、D20S482、D14S1434、D9S1122、D...     

中国撒拉族常染色体STR基因座遗传多态性研究

本文利用常染色体的15个STR基因座,对西北特有少数民族撒拉族进行基因扫描,获得15个STR位点的A基因频率、杂合度、个体识别能力、非父排除率、累计非父排除率、耦合率和多态信息含量等遗传信息,显示15个STR位点具有中度或高度多态性,结论：所选择的15个STR位点具有中等或较高的个体识别力和多态性信息量,可用于群体遗传学和法医学研究。     

中国汉族人群14号染色体上五个STR的遗传多态分析

目的 分析中国汉族人群１４号染色体上５个ＳＴＲ的基因及基因型分布情况。方法 采用ＰＣＲ扩增技术和聚丙烯酰胺凝胶电泳方法,对５０名中国汉族人１４号染色体上Ｄ１４Ｓ７４２,Ｄ１４Ｓ３０６,Ｄ１４Ｓ６０６,Ｄ１４Ｓ６１７和Ｄ１４Ｓ６１１位点的遗传多态性进行分析。结果 在Ｄ１４Ｓ７４２位点,共观察到５个等位片段和１３种基因型,最常见的等位片段为４０７ｂｐ片段,频率为０．３１;Ｄ１４Ｓ３０６位点,共观察到５     

成都汉族群体八个STR基因座遗传多态性研究

目的 了解中国人８个ＳＴＲ基因座等位自然结构特征,获得汉族群体的遗传数据。方法 ＥＤＴＡ抗凝血样采自成都地区无新缘关系汉族个体。Ｃｈｅｌｅｘ法提取ＤＮＡ,ＰＣＲ护增,非变性聚丙烯酰胺凝胶不连续缓冲系统水平电泳分型,自动激光荧光测序仪测定ＤＮＡ序列。结果 序列分析显示,成都汉族人８个ＳＴＲ基因座中,５个ＳＴＲ基因座具有简单重复序列,３个ＳＴＲ基因座具有复杂重复序列。８个ＳＴＲ基因座在成都汉族群体中均     

成都地区汉族人群15个STR基因座遗传多态性的研究

目的对成都汉族D3S1358,TH01,D21S11,D18551,PentaE,D55818,D13S317,D7S820,D16SS39,CSF1PO,Penta D,VWA,D8S1179,TPOX,FGA等15个STR基因座的遗传多态性进行群体遗传学研究。方法利用荧光标记复合扩增及毛细管电泳自动荧光检测的方法,对232名无关个体获得15个STR基因座等位基因的分布频率等群体遗传学数据。结果 D3S1358,TH01,D21S11,D18551,PentaE,D55818,D13S317,D7S820,D16SS39,CSF1PO,Penta D,VWA,D8S1179,TPOX,FGA等15个基因座上分别检出等位基因经检验在D3S1358、TH01、D21S11、D18551、PentaE、D55818、D13S317、D7S820、D16SS39、CSF1PO、Penta D、VWA、D8S1179、TPOX、FGA基因座上分别有8,6,16,16,20,9,8,8,8,8,11,12,8,6,18个等位基因。他们的等位基因频率分别在0.002-0.356、0.037-0.498、0.002-0.256、0.002-0.19、0.002-0.168、0.002-0.349、0.002-0.284、0.002-0.371、0.002-0.267、0.002-0.366、0.002-0.328、0.002-0.31、0.024-0.211、0.002-0.519、0.002-0.209之间。15个STR基因座的基因型在调查的群体中的分布符合Hardy-weinberg平衡,累积个人识别率(TDP)大于0.99999999,累积非父排除率(CEP)等于0.999999。结论这15个STR基因座多态性好,灵敏度高,可用于人类遗传分析及法医学中的亲子鉴定和个人识别。     

中国汉族群体五个STR基因座遗传多态性研究

目的了解中国人５个ＳＴＲ基因座等位片段结构特征,获得汉族群体ＦＧＡ、Ｄ５Ｓ８１８、Ｄ７Ｓ８２０、Ｄ１３Ｓ３１７和Ｄ１６Ｓ５３９基因座的群体遗传数据。方法ＥＤＴＡ抗凝血样采自成都地区无血缘关系汉族个体。Ｃｈｅｌｅｘ法提取ＤＮＡ,ＰＣＲ扩增,非变性聚丙烯酰胺凝胶不连续缓冲系统水平电泳分型,自动激光荧光测序仪测定ＤＮＡ序列。结果序列分析显示,中国人Ｄ５Ｓ８１８、Ｄ７Ｓ８２０、Ｄ１３Ｓ３１７和Ｄ１６Ｓ５３９基因座具有简单重复序列,而ＦＧＡ基因座具有复杂重复序列。５个ＳＴＲ基因座在成都汉族群体中均具有遗传多态性。结论揭示了我国汉族人群５个ＳＴＲ基因座的等位片段结构特征,为人类群体遗传研究提供了数据,建立的不连续缓冲系统水平电泳分型方法为检测这五个ＳＴＲ基因座提供了简便技术。     

Genetic diversity of 23 STR loci in Guangxi Zhuang population and its phylogenetic relationship with 25 other populations

Abstract

Aim: To estimate genetic diversity of 23 STR loci included in the DNA Typer^TM 25 Kit, and evaluate its effectiveness in forensic application.

Subjects and methods: A total of 450 (251 males and 179 females) unrelated healthy individuals from Guangxi Zhuang population were amplified with DNA Typer^TM 25 Kit, isolated by the 3730 Series Genetic Analyzer^TM, and genotyped using the GeneMapper ID-X. Genetic parameters and population relationships were analysed.

Results: Allele frequencies ranged from 0.001 to 0.5889. The combined power of discrimination (CPD) and the combined power of exclusion (CPE) of the 23 STR loci were 0.999999999999999999 and 0.999996765, respectively. No deviations from Hardy–Weinberg equilibrium and linkage disequilibrium were observed. Inter-population comparison based on Fst, PCA, genetic distance, phylogenetic trees, and MDS showed that Zhuang population clustered with the populations holding a close geographic distance with Zhuang (Guangdong Han and Hainan Li populations).

Conclusions: Our study indicated that the 23 autosomal STR loci included in DNA Typer^TM 25 Kit can be used as forensic tools for individual identification and parentage testing. Moreover, the result of our mass investigation will enrich the forensic database of Chinese populations and serve for further study of the origin of anthropology.     

应用D7S820基因座研究中国8个地区汉族人群的亲缘关系

收集D7S820基因座的8个不同地区汉族的相关遗传资料。应用亲缘系数(I)和遗传距离(D)研究八个汉族群体间的遗传关系，并根据遗传距离绘制遗传树。结果显示，成都、贵州和浙江汉族为一群，西安、太原、河北和长白山汉族为一群，而北京汉族为独立的一群。     

Genetic polymorphisms of 20 autosomal STR loci in the Han population of Putian City,Southeastern China

Abstract

Background: Short tandem repeats (STRs) are genetic markers that are more informative than single nucleotide polymorphisms and they are widely used in forensic DNA analysis.

Aim: To carry out the genetic analysis of 20 autosomal STR loci in Han individuals of Putian City, Southeast China, to expand the available population information for human genetic databases and forensic analysis.

Subjects and methods: Saliva swabs from 1417 unrelated Chinese Han individuals from Putian City of Southeast China were collected and then genotyped using the SureID^® 21G Human STR Identification Kit. Moreover, phylogenetic analysis based on the Nei’s standard genetic distance was performed between the Han population and other relevant populations based on the shared autosomal STR genotyping.

Results: We found 272 alleles among 1417 unrelated individuals and the corresponding allelic frequencies ranged from 0.5409 to 0.0004. The combined power of exclusion (CPE) was 0.999999995514, and the combined power of discrimination (CPD) was 0.9999999999999999999999994061. Population comparison revealed that the Putian Han population makes a cluster with other Han populations from China while showing significant differences when compared with other worldwide populations.

Conclusions: Our results found that the SureID^® 21G Human STR Identification Kit panel was appropriate for forensic identity testing and paternity testing. Putian Han population had a closer genetic relationship with Han populations from other regions in China, while other minorities like Uighurs and Kazakhs from China showed significant differences.     

Structure and genetic relationship of five populations from central India based on 15 autosomal STR loci

Aim: To estimate population parameters based on allele frequencies obtained for 15 polymorphic autosomal STR loci investigated in caste and tribal populations of central India (n?=?419).

Methods: Multiplexed PCR amplifications of the 15 Autosomal STR Loci were performed and amplified products were genotyped using multi-capillary electrophoresis on an ABI 3100 genetic analyser. Parameters of population genetics and forensic interest based on the allele frequencies were calculated. Genetic affinity of the studied populations among themselves and with previously reported populations of India was also analysed using distance-based NJ tree and using PCA plot.

Results: All the 15 STR loci were highly informative and discriminating, with CPD of 0.999 99. Except for Brahmins and Rajput, all other studied populations were in Hardy–Weinberg equilibrium (HWE). The only tribe (Gond) population studied showed significant variation with the other four caste populations (Brahmin, Yadav, Rajput and Muslim) studied and formed a cluster with other previously reported tribal populations of India. Nei’s genetic distance based clustering pattern of the NJ tree and the PCA plot showed the same pattern of genetic relationship, i.e. caste and tribal populations formed a distinct cluster.

Conclusions: With respect to the distribution of alleles at each STR locus, the studied loci were found to be substantially polymorphic in all the studied populations, indicating good informativeness of all 15 STR markers. The population data generated in this study are useful for forensic, anthropological and demographic studies.     

牡丹江地区汉族群体6个STR基因座的遗传多态性研究

目的 调查牡丹江地区汉族群体6个基因座的基因多态性。方法 应用扩增片段长度多态性（Amp-FLP）分型技术，检测牡丹江地区100名无血缘关系汉族个体CSFlPO，TPOX，TH01， D16S539，D7S820，D13S317 6个基因座等位基因频率和基因型分布。结果 经χ2检验表明6个STR基因座基因型分布符合Hardy-Weinberg平衡；6个基因座的总偶合率为1.98618E-06，总个体识别率达1.000，三联体累计非父排除率OCE=0.9878，二联体累计非父排除率0.9160。结论 6个基因座在牡丹江地区汉族群体中有较高的非父排除率和个人识别机率，可应用于法医学亲子鉴定和个体识别。牡丹江地区的汉族与朝鲜族基因频率相比较，TPOX、TH01和D16S539基因座有显著性检差别，CSFlPO、D7S820和D13S317基因座无显著性差别。     

Polymorphism analysis and evaluation of nine non-CODIS STR loci in the Han population of Southern China

Background: Knowledge of allele and genotype frequencies is an essential prerequisite to the use of any human polymorphism in forensic work.

Aim: To study the genetic polymorphism and evaluate the application value of nine STR loci.

Subjects and methods: Genotyping of nine STR loci, including D11S2368, D12S391, D13S325, D18S1364, D22-GATA198B05, D6S1043, D2S1772, D7S3048 and D8S1132, of 1050 unrelated individuals was performed with the STR_Typer_10_v1 kit and Genetic Analyzer 3100 and analyzed with PowerState V12.xls and Arlequin ver 3.11 analyzing software.

Results: Allele frequency distribution was statistically analyzed and Hardy–Weinberg equilibrium determined. Several common parameters used in forensic sciences were found: the heterozygosity (H) ranged from 0.827 to 0.892; the matching probability (MP) ranged from 0.029 to 0.074; the power of discrimination (PD) ranged from 0.926 to 0.971; the power of exclusion (PE) ranged from 0.649 to 0.779; the polymorphic information content (PIC) ranged from 0.77 to 0.86; and the typical paternity index (TPI) ranged from 2.88 to 4.62.

Conclusion: The results indicate that nine STR loci are high polymorphic among the Han population in Southern China. This set of polymorphic STR loci is a useful tool in forensic paternity testing and anthropological study.     

Identification of the sequence variations of 15 autosomal STR loci in a Chinese population

Background: DNA sequence variation including base(s) changes and insertion or deletion in the primer binding region may cause a null allele and, if this changes the length of the amplified fragment out of the allelic ladder, off-ladder (OL) alleles may be detected.

Aim: In order to provide accurate and reliable DNA evidence for forensic DNA analysis, it is essential to clarify sequence variations in prevalently used STR loci.

Subjects and methods: Suspected null alleles and OL alleles of PlowerPlex16® System from 21?934 unrelated Chinese individuals were verified by alternative systems and sequenced.

Results: A total of 17 cases with null alleles were identified, including 12 kinds of point mutations in 16 cases and a 19-base deletion in one case. The total frequency of null alleles was 7.751?×?10^?4. Eight hundred and forty-four OL alleles classified as being of 97 different kinds were observed at 15 STR loci of the PowerPlex®16 system except vWA. All the frequencies of OL alleles were under 0.01.

Conclusion: Null alleles should be confirmed by alternative primers and OL alleles should be named appropriately. Particular attention should be paid to sequence variation, since incorrect designation could lead to false conclusions.     

Evaluation of genetic parameters of 23 autosomal STR loci in a Southern Chinese Han population

Aim: To evaluate the 23 autosomal short tandem repeat (STR) loci included in GoldenEye? 25?A kit using forensic human identification and paternity testing.

Subjects and methods: In total, 3751 unrelated individuals from the Southern Chinese Han population were genotyped with the 5-dye GoldenEye? 25?A multiplex amplification system. PCR products were separated using arrayed capillary electrophoresis. Allele frequencies and forensic parameters for the 23 autosomal STR loci were statistically analysed.

Results: A total of 344 alleles were observed, with corresponding allelic frequencies ranging from 0.0001–0.5519 for the 23 STR loci. No significant deviation from the Hardy-Weinberg equilibrium and linkage disequilibrium was observed. The combined power of discrimination (CPD) was 1–1.6290?×?10^?28 and the combined power of exclusion (CPE) was 0.999 999 999 89 and 0.999 999 286 93 for trio and duo cases, respectively. From 3865 meioses, 87 mutation events were discovered. The mutation rate varied from 0–0.00285 for each locus. One-step mutation accounted for 94.25% of total mutations. The ratio of paternal vs maternal mutation was 3.76:1.13 kinds of n/(n?+?1) heterozygote genotypes were observed.

Conclusions: The results show that 23 STR loci of GoldenEye? 25?A kit are highly polymorphic in the Southern Chinese Han population, indicating the kit is suitable for forensic application.     

六色荧光标记同步检测27个STR基因座的法医学应用评估

目的探讨同步检测27个STR基因座多态性及法医学应用价值。方法用Power PlexFusion 6C荧光标记系统对274份广东汉族无关个体的DNA进行PCR扩增,在3130XL遗传分析仪上进行电泳分析。用Gene MapperID-X软件分析基因型,用Power Stats v1.2软件分析群体遗传学参数。并观察该系统对微量及混合检材的检验效果。结果 23个常染色体STR基因座遗传多态性高,在广东汉族人群的累积个人识别率为1-2.3×10-28,累积非父排除率为0.999 999 999。DYS391、DYS570和DYS576的GD值分别为0.481、0.791和0.751,共检出58种单倍型,单倍型多态性为0.337。微量检材STR基因座检出率为93.33%,混合检材Y-STR基因座检出率为96.67%。结论 Power PlexFusion 6C系统遗传多态性高,可以用于亲缘鉴定、个体识别以及数据库建设。