广州地区汉族群体15个短串联重复序列基因座遗传多态性分析

目的:调查广州地区汉族人群15个短串联重复序列(short tandem repeat,STR)基因座遗传多态性分布。方法:应用荧光标记多重PCR方法和毛细管电泳技术,检测156名汉族无关个体的15个STR基因座基因型。结果:15个STR基因座的基因频率分布均符合Hardy-Weinberg平衡,15个STR遗传标记均具有高度多态性,杂合度均超过0.64,15个基因座的个体识别力在0.816～0.966之间,非父排除率在0.343～0.725之间,匹配概率在0.038～0.184之间。15个基因座的累积个体识别能力为0.999 999以上,累积非父排除率为0.999 75,累积匹配概率为8.84×10-18。结论:该15个STR基因座具有高度多态性,可用于移植术后供者植入状态的监测。     

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。     

桂林地区汉族15个短串联重复序列基因座的遗传多态性

目的 分析15个短串联重复序列(short tandem repeat,STR)在桂林汉族群体的遗传多态性.方法 应用Chelex法提取DNA,用AmpFISTR IdentifilerTM试剂盒分析15个STR基因座.结果 发现4种稀有等位基因:FGA*10,D2S1338*10,D3S1358*16.2,D3S1358*17.2.15个STR基因座的累积匹配概率为2.89×10-17,累积非父排除率为0.9999993.结论 15个STR基因座在桂林汉族群体有较好的个人识别率和非父排除率.     

山西地区汉族人群六个短串联重复序列基因座的遗传多态性

目的 分析山西地区汉族D9S925、D11S2368、D14S608、D15S659、D17S1290、D20S470等6个短串联重复序列(short tandem repeat,STR)基因座的遗传多态性.方法 根据GenBank资料合成D9S925、D11S2368、D14S608、D17S1290、D20S470基因座引物,自行设计D15S659引物,对山西汉族194个无关个体DNA进行PCR扩增,3130型基因分析仪电泳分析,GeneMapper(R)3.2分析等位基因片段大小,测序后命名.结果 6个STR基因座基因型频率分布符合Hardy-Weinberg平衡(P＞0.05).6个STR基因座的多态性信息含量在0.750～0.860之间,杂合度在0.756～0.894之间,个体识别力在0.920～0.965之间,非父排除概率在0.519～0.784之间,累积非父排除率为0.9988,累积个体识别能力为0.99999998.结论 本次研究的6个STR基因座在山西汉族群体中等位基因频率分布均匀,多态性好,适用于法医学亲子鉴定及个人识别,可作为现有基因座的补充.     

山西地区汉族人群六个短串联重复序列基因座的遗传多态性

目的 分析山西地区汉族D9S925、D11S2368、D14S608、D15S659、D17S1290、D20S470等6个短串联重复序列(short tandem repeat,STR)基因座的遗传多态性.方法 根据GenBank资料合成D9S925、D11S2368、D14S608、D17S1290、D20S470基因座引物,自行设计D15S659引物,对山西汉族194个无关个体DNA进行PCR扩增,3130型基因分析仪电泳分析,GeneMapper(R)3.2分析等位基因片段大小,测序后命名.结果 6个STR基因座基因型频率分布符合Hardy-Weinberg平衡(P＞0.05).6个STR基因座的多态性信息含量在0.750～0.860之间,杂合度在0.756～0.894之间,个体识别力在0.920～0.965之间,非父排除概率在0.519～0.784之间,累积非父排除率为0.9988,累积个体识别能力为0.99999998.结论 本次研究的6个STR基因座在山西汉族群体中等位基因频率分布均匀,多态性好,适用于法医学亲子鉴定及个人识别,可作为现有基因座的补充.     

山西地区汉族人群六个短串联重复序列基因座的遗传多态性

目的 分析山西地区汉族D9S925、D11S2368、D14S608、D15S659、D17S1290、D20S470等6个短串联重复序列(short tandem repeat,STR)基因座的遗传多态性.方法 根据GenBank资料合成D9S925、D11S2368、D14S608、D17S1290、D20S470基因座引物,自行设计D15S659引物,对山西汉族194个无关个体DNA进行PCR扩增,3130型基因分析仪电泳分析,GeneMapper(R)3.2分析等位基因片段大小,测序后命名.结果 6个STR基因座基因型频率分布符合Hardy-Weinberg平衡(P＞0.05).6个STR基因座的多态性信息含量在0.750～0.860之间,杂合度在0.756～0.894之间,个体识别力在0.920～0.965之间,非父排除概率在0.519～0.784之间,累积非父排除率为0.9988,累积个体识别能力为0.99999998.结论 本次研究的6个STR基因座在山西汉族群体中等位基因频率分布均匀,多态性好,适用于法医学亲子鉴定及个人识别,可作为现有基因座的补充.     

德州地区汉族人群两个短片段重复序列多态性调查

目的调查2个短片段重复序列基因座在德州地区汉族人群中的基因频率分布。方法采集168份无关个体抗凝血样本，应用聚合酶链反应和非变性聚丙烯酰胺凝胶电泳及银染技术检测2个STR基因座进行多态性研究。结果在德州地区汉族人群中2个STR基因座个体识别概率为0．9026和0．8501，杂合度为0．7720和0．6652，多态性信息含量为0．7450到0．6206之间。非父排除率为0．5571和0．4296，2个基因座经χ^2检验符合Hard Weinberg平衡。结论上述2个STR基因座在德州地区汉族人群中等位基因分布较好，个体识别率较高，在法医鉴定和亲权鉴定中具有一定的应用价值。     

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。     

九个非DNA联合索引系统核心短串联重复序列基因座在广东汉族人群的遗传多态性

目的 调查D7S3048等9个非DNA联合索引系统(combined of DNA index system,CODIS)指定的核心短串联重复序列(short tandem repeat,STR)基因座在广东汉族人群的遗传多态性.方法 采用荧光标记复合扩增和毛细管电泳技术,对广东汉族500名无关个体的DNA进行9个STR基因座分型.结果 500名无关个体在D7S3048等9个非CODIS核心STR基因座共检出115个等位基因,160种基因型,各基因座杂合度为0.824～0.884,个人识别能力为0.925～0.969,多态信息总量为0.77～0.86,均符合Hardy-Weinberg平衡(P>0.05),9个STR基因座的累计个体识别力达1.00×10~(-13),三联体累计非父排除率为0.999989488,二联体累计非父排除率为0.873436.结论 D7S3048等9个STR基因座在个体识别及亲子鉴定中是一个高效的检测系统,在二联体亲子鉴定中可作为补充基因座满足疑难、单亲和突变案件的需求.     

云南汉族15 个短串联重复序列基因座遗传多态性特征及分析

目的:调查云南地区汉族的D8S1179、D21S11、D7S820、CSF1PO、D3S1358、TH01、D13S317、D16S539、D2S1338、D19S433、VWA、TPOX、D18S51、D5S818、FGA 15 个短串联重复序列(Short tandem repeat,STR)基因座的遗传多态性。方法:收集云南汉族313 名无关个体血样,提取DNA,PCR 复合扩增并利用ABI鄄3130 型基因分析仪进行毛细管电泳检测每个样本各基因座的等位基因大小,分别统计每个STR 基因座各基因型的频率,并进行Hardy-Weinberg 遗传平衡检验。结果:云南汉族这15 个STR 基因座各基因型频率分布符合Hardy-Weinberg 平衡(P>0.05),杂合度在0.636 ~0.901,匹配概率在0.034 ~0.220,单一STR 位点的个体识别率在0.780 ~0.966、非父排除率在0.336 ~0.797、多态性信息总量在0.555 ~0.860,联合使用这15个位点所产生的累积个体识别率大于0.999 999 99,累积非父排除率等于0.999 998 408。与中国其他地区汉族群体这15 个STR 基因座等位基因频率分布相比有较高的相似性,但也有轻微的地区差异。结论:云南汉族的D8S1179、D21S11、D7S820、CSF1PO、D3S1358、TH01、D13S317、D16S539、D2S1338、D19S433、VWA、TPOX、D18S51、D5S818、FGA 这15 个STR 基因座具有高度的多态性,与中国其他地区汉族群体有较高的相似性,在法医学中的亲子鉴定和个人识别方面具有较高应用价值。     

湖北土家族群体15个短串联重复序列基因座遗传多态性

目的 调查湖北地区土家族人群15个短串联重复序列(short tandem repeat,STR)基因座遗传多态性分布和群体遗传学数据,比较分析湖北土家族与重庆土家族等位基因的分布频率.方法 采用毛细管电泳技术和五色荧光复合扩增的方法,对湖北土家族333名无关个体的15个STR基因座进行基因分型.结果 共检出151个等位基因,多于重庆土家族的等位基因检出数(141个),其频率分布在0.002～0.498之间.经Statistical genetics软件分析,各基因座的群体基因型分布符合Hardy-Weinberg平衡(P＞0.05).15个STR基因座的杂合度在0.652～0.867之间,个体识别力在0.802～0.971之间,累积个体识别力大于0.9 999 999;非父排除率在0.357～0.730之间,累积非父排除率为0.9 999 997;多态信息含量在0.57～0.87之间.结论 建立了湖北土家族人群的STR基因座的群体资料,为土家族人群的群体遗传学研究、法医个人识别、亲子鉴定提供了基础数据;湖北土家族与重庆土家族亲缘关系相近,等位基因频率差异无统计学意义(P＞0.05),但在等位基因检出数及部分基因分布频率上仍存在差异.     

Population genetic study of the STR loci (HUMCSF1PO,HUMTPOX, HUMTHO1, HUMLPL,HUMF13A01, HUMF13B,HSFESFPS and HUMVWA) in North Indians

BACKGROUND: Highly polymorphic genetic markers like short tandem repeats (STRs) have been used successfully in disease analysis and studies of human evolution and population genetic diversity. However, DNA-based population genetic studies of Indian populations are limited. SUBJECTS AND METHODS: To enlarge our understanding of genetic variation in Indian populations, a population genetic study was carried out on Jat Sikh (Punjab, North India) individuals (n = 150) using a battery of the STR loci. The STR loci analysed by means of PCR amplification followed by electrophoresis and silver staining included HUMCSF1PO, HUMTPOX, HUMTHO1, HUMLPL, HUMF13A01, HUMF13B, HUMFESFPS and HUMVWA loci. RESULTS: The overall pattern of allele frequencies was similar to many Caucasian and Indian populations and heterozygosity varied from 65% (HUMLPL) to 85% (HUMVWA). For all eight loci, no deviations from the Hardy-Weinberg equilibrium hypothesis were detected. Significant differences were observed between Jat Sikhs and African, Chinese and Indian tribes. The mean exclusion probability ranged from 35% to 70%, and the power of discrimination from 81% to 93%, indicating the potential of these loci for forensic and paternity investigations. CONCLUSION: The allele frequency spectrum, heterozygosity, probability of exclusion, match probability and discrimination probability estimates show interesting variation and suggest the usefulness of these loci for anthropogenetic, paternity and forensic investigations in Indian populations.     

九个非DNA联合索引系统短串联重复序列基因座在河北汉族群体的遗传学调查及在亲子鉴定中的应用

目的 调查9个非DNA联合索引系统(DNA combined index system,CODIS)的短串联重复序列(short tandem repeat,STR)基因座在河北汉族人群的等位基因分布,评估其在亲子鉴定中的应用价值.方法 应用 STRtyper 10G试剂盒调查147名河北汉族健康无关个体基因分型,计算...     

Population genetic study of the STR loci (HUMCSF1PO,HUMTPOX, HUMTHO1, HUMLPL,HUMF13A01, HUMF13B,HSFESFPS and HUMVWA) in North Indians

Background: Highly polymorphic genetic markers like short tandem repeats (STRs) have been used successfully in disease analysis and studies of human evolution and population genetic diversity. However, DNA-based population genetic studies of Indian populations are limited. Subjects and Methods: To enlarge our understanding of genetic variation in Indian populations, a population genetic study was carried out on Jat Sikh (Punjab, North India) individuals ( n = 150) using a battery of the STR loci. The STR loci analysed by means of PCR amplification followed by electrophoresis and silver staining included HUMCSF1PO, HUMTPOX, HUMTHO1, HUMLPL, HUMF13A01, HUMF13B, HUMFESFPS and HUMVWA loci. Results: The overall pattern of allele frequencies was similar to many Caucasian and Indian populations and heterozygosity varied from 65% (HUMLPL) to 85% (HUMVWA). For all eight loci, no deviations from the Hardy-Weinberg equilibrium hypothesis were detected. Significant differences were observed between Jat Sikhs and African, Chinese and Indian tribes. The mean exclusion probability ranged from 35% to 70%, and the power of discrimination from 81% to 93%, indicating the potential of these loci for forensic and paternity investigations. Conclusion: The allele frequency spectrum, heterozygosity, probability of exclusion, match probability and discrimination probability estimates show interesting variation and suggest the usefulness of these loci for anthropogenetic, paternity and forensic investigations in Indian populations.     

中国牡丹江地区朝鲜族群体九个STR基因座的遗传多态性研究

目的 调查中国牡丹江地区朝鲜族群体CSFIPO,TPOX,TH01,D16S539.D7S820,D13S317,F13A01,FESFPS,vWA 9个短串联重复序列(short tandem repeats,STR)基因座的基因多态性.方法 应用扩增片段长度多态性分型技术,获得等位基因频率分布.结果 X2检验表明9个基因座基因型分布均符合Hardy.Weinberg平衡.总偶合率为5.43595E-09,总个体识别率达0.999999995,三联体累计非父排除率为0.9982,二联体累计非父排除率为0.9711.结论 9个基因座在牡丹江地区朝鲜族群体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.中国牡丹江地区和中国延吉地区朝鲜族人群6个基因频率相比较,CSFIPO、TPOX和TP01 3个基因座的基因频率分布差异有统计学意义,D7S820、D17S317和vWA 3个基因座的基因频率分布差异无统计学意义.     

Genetic composition of Teochew population in Chaozhou revealed by 19 STR loci: population polymorphism and interpopulation comparisons

Abstract

Aim: To investigate the genetic polymorphisms of 19 STR loci in the Teochew population of Chaozhou.

Subjects and methods: Nineteen STR loci of 631 unrelated Teochew people in Chaozhou were detected by using the AGCU Expressmarker 20 kit.

Results: The allele frequency ranged from 0.0008–0.5577. The combined power of discrimination and combined probability of excluding paternity is over 0.999,999,999,999,999,999,999,999,999,999 and 0.999,999,992,549,546, respectively. The principal component analysis based on the 11 shared STR loci showed the Teochew population was most genetically related to the Fujian Han population.

Conclusion: The results demonstrate the set of 19 autosomal STRs could provide robust genetics information for individual identification, paternity testing and human genetics research in the Teochew population.     

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.