Genomic diversity at 15 fluorescent labeled short tandem repeat loci in few important populations of State of Uttar Pradesh,India

Genomic diversity at 15 short tandem repeat loci is studied in four major endogamous populations of Uttar Pradesh (UP), India. The studied populations included Thakur, Khatri, Kurmi and Jat; all of whom belong to Hindi speaking linguistic group of UP State of India. All the STR loci of Powerplex 16 System have been found highly significant in showing genomic diversity among the addressed populations. Homozygosity test values for all the 15 loci in studied population range between 0.053 and 0.999, following Hardy-Weinberg equilibrium. Distribution of allele pattern at fluorescent labeled 13 tetranucleotide repeat loci and two pentanucleotide repeat loci of Powerplex 16 System portrays that these markers are highly polymorphic, and thus, suitable in human identity testing and human genetic studies.     

Genetic polymorphism at 15 tetrameric short tandem repeat loci in four aboriginal tribal populations of Bengal

POPULATIONS: This study reports the genetic polymorphism observed at 15 short tandem repeat loci D3S1358, TH01, D21S11, D18S51, D5S818, D13S317, D7S820, D16S539, CSF1PO, vWA, D8S1179, TPOX, D2S1338, D19S433, and FGA in four aboriginal populations of Bengal. The analysis was performed to decipher the suitability of CODIS as well as six other highly polymorphic and unlinked markers in Forensic Testing. Studied populations include four tribes: Karmali, Kora, Maheli, and Lodha.     

15个STR基因座的突变观察和分析

目的调查15个STR基因座的突变情况。方法采集817例亲子鉴定的2722份血样本,采用Identi—filerTM系统扩增15个STR基因座分型,共有33060次等位基因传递,统计各基因座发生突变的频率。结果在15个基因座中发现涉及11个基因座共25次突变,平均突变率为0．8×101（95％C10．5—1．1×10-3）,其中一步突变20次,两步突变3次,三步突变2次;父、母来源突变比率为2．6：1,不能确定来源突变7次。结论STR基因座等位基因在IdentifilerTM复合扩增系统突变现象较为常见,亲子鉴定时应引起注意。     

Genotypic polymorphisms at seventeen autosomal short tandem repeat loci in four tribal populations of Andhra Pradesh, India

Four tribal populations of Andhra Pradesh, South India (1), Chenchu (n=100), Lambadi (n=107), Naikpod Gond (n=104) and Yerukula (n=101) were analyzed for DNA polymorphisms at 15 tetranucleotide and 2 pentanucleotide short tandem repeat (STR) loci in the present study.     

Regional Italian allele frequencies at nine short tandem repeat loci

An Italian population study was performed on the loci D3S1358, vWA, FGA, TH01, TPOX, CSF1PO, D5S818, D13S317, D7S820 and a portion of the X-Y homologous gene Amelogenin for gender determination using the AmpFlSTR Profiler kit (PE Biosystems, Foster city, CA). This study was done on a population of 618 unrelated Italian individuals from 18 regions in Italy (except for Valle d'Aosta and Sardinia) to determine allele frequencies for each STR locus, and to evaluate STR technology for developing an Italian Offender DNA database.     

甘肃省汉族人群18个STR位点的遗传多态性

目的 调查18个短串联重复序列（Short Tandem Repeat,STR）位点在甘肃省汉族人群中的基因频率分布.方法 采用PCR扩增及毛细管电泳技术对272名个体的18个STR基因座进行分析.结果 共检出202种等位基因,基因频率分布在0.002～0.570之间.18个STR基因型分布均符合Hardy-Weinberg平衡（P＞0.05）,杂合度在0.599～0.893之间,个人识别能力在0.771～0.984,多态信息含量在0.534～0.910,非父排除概率在0.290～0.782.结论 本研究结果可为人类群体遗传学及法医学后续研究提供详实可靠的基础数据.     

Sequence variation in humans and other primates at six short tandem repeat loci used in forensic identity testing

A large number of alleles from the six different short tandem repeat (STR) loci FGA, D3S1358, vWA, CSF1PO, TPOX and TH01, used in human identity testing were sequenced to provide support for the robustness of fluorescent STR DNA typing by allele size. Sequence information for some of these loci (FGA, vWA, TH01) is an extension of published work, whereas no extensive sequence information is available with respect to the D3S1358, CSF1PO, and TPOX loci. Sequencing of alleles at each locus has provided quantitative data with respect to the true nucleotide length of common alleles, and of alleles that vary in length from the common alleles. All alleles that were identified as "off-ladder" alleles through fluorescent typing at these STR loci have proven to be true length variant alleles. Sequencing at the D3S1358 and CSF1PO loci allowed for the establishment of a common nomenclature for these loci. A correlation between percent stutter and the length of the core tandem repeat is demonstrated at the FGA locus. Alleles in which the core tandem repeat is interrupted by a repeat unit of different sequence have a reduced percent stutter. DNA samples from three non-human primates (chimpanzee, orangutan, and gorilla) were compared to the human sequences, and shown to differ markedly across loci with respect to their homology. The effects of primer binding site mutations on the amplification efficiency at a particular locus, and methods used to interpret amplification imbalance of heterozygous alleles at a locus is also addressed.     

Mutations of short tandem repeat loci in Identifiler system

OBJECTIVE: To explore and analyze the mutations of 15 Short Tandem Repeat (STR) loci using Identifiler system in paternity identification. METHODS: 2712 cases of paternity testing were carried out using Identifiler PCR Amplification Kit. RESULTS: Of the 2362 paternity testing cases, mutations of single locus were observed in 51 cases. The mutation loci included D8S1179, D21S11, D7S820, CSF1PO, D3S1358, D13S317, D16S539, D2S1338, D19S433, vWA, D18S51, D5S818 and FGA, with the D21S11 locus having a highest mutation rate (0.369%). Thirty-six of the STR mutations were from paternal source, 7 from maternal source, and the rest (9) were undeterminable. The mutation rates at D21S11 were highest (0.369%). CONCLUSION: Mutations of STR loci are relatively common in human genome. Therefore, retesting of additional relatively stable STR loci with lower mutation rates is necessary when one or two loci exclusions are encountered in paternity testing.     

Allele frequencies for 15 short tandem repeat loci in a representative sample of Bosnians and Herzegovinians

Allele frequencies for the 15 STR loci (D3S1358, TH01, D21S11, D18S51, Penta E, D5S818, D13S317, D7S820, D16S539, CSF1PO, Penta D, vWA, D8S1179, TPOX, FGA) included in the PowerPlex 16 kit were obtained from a multiethnic sample of 100 unrelated individuals born in Bosnia and Herzegovina.     

Allele frequencies of 20 Y-chromosomal short tandem repeat loci in a tribal population of Deccan Plateau, India

Population: Eighty male individuals from a nomadic tribal population belonging to Dravidian and Indo-Caucasian ethnicities from Deccan Plateau, Andhra Pradesh, India, were analyzed in the present study.     

Population study of six short tandem repeat loci in Antalya,Turkey

Population studies of six short tandem repeat loci were carried out in a sample of unrelated Turkish individuals living in Antalya province, southwest Turkey. After electrophoresis in polyacrylamide gels, 8 alleles could be identified for THO1, 6 for TPOX and CSF1PO, 9 for VWA, 7 for FES, and 14 for F13A01. There was a significant deviation from the Hardy-Weinberg equilibrium between observed and expected values for FES and TPOX loci.     

中国汉族人群41个STR基因座突变情况的观察分析

目的调查41个STR基因座在中国汉族人群中的突变情况。方法收集1 932个三联体家系4 546份血样本,采用AGCU_21+1、AGCU_EX22、Global Filer_Express~(TM)系统扩增41个STR基因座分型,统计各基因座发生突变的频率。结果 150个三联体在32个基因座共观察到154次突变,平均突变率为1.0×10~(-3)(95%CI:0.8~1.1×10~(-3)),突变率最高的是基因座SE33。其中一步突变152次(98.7%),两步突变2次(1.3%);146个三联体仅1个基因座发生突变(97.3%),4个三联体在2个基因座发生突变(2.7%);父、母来源突变比率约为4.7:1。结论 STR基因座等位基因突变现象较为常见,亲子鉴定时应引起注意。