Allele frequencies of six miniSTR loci (D10S1248, D14S1434, D22S1045, D4S2364, D2S441 and D1S1677) in a Spanish population

Allele frequencies and forensic parameters for six miniSTR autosomal loci (D10S1248, D14S1434, D22S1045, D4S2364, D2S441 and D1S1677) were obtained from a sample of 264 unrelated individuals from Spain. No significant deviations from Hardy-Weinberg expectations were found. Due to the small PCR products (<125 bp), the use of these non-CODIS (NC) miniSTRs can increase the probability that a degraded sample can be typed. Additionally, these systems can be used in routine paternity analyses where more markers are needed to increase the power of exclusion or in complex paternity cases (e.g. involving closely related individuals).     

Thai population data on 15 tetrameric STR loci-D8S1179, D21S11, D7S820, CSF1PO, D3S1358, TH01, D13S317, D16S539, D2S1338, D19S433, vWA, TPOX, D18S51, D5S818 and FGA

The genetic variations for 15 short tandem repeat (STR) loci-D8S1179, D21S11, D7S820, CSF1PO, D3S1358, TH01, D13S317, D16S539, D2S1338, D19S433, vWA, TPOX, D18S51, D5S818 and FGA, were performed on a population of 210 unrelated Thai individuals using the commercially available AmpF/STR Identifiler kit.     

Allele frequencies of the ACTBP2 (=SE33), D18S51, D8S1132, D12S391, D2S1360, D3S1744, D5S2500, D7S1517, D10S2325 and D21S2055 loci in a German population sample

A population study on 10 tetrameric STR loci (ACTBP2 (=SE33), D18S51, D8S1132, D12S391, D2S1360, D3S1744, D5S2500, D7S1517, D10S2325, D21S2055) was performed with Germans from Bavaria.     

Allele distribution data of nine short tandem repeat loci for Turkish population: D3S1358, vWA,FGA, D8S1179, D21S11, D18S51, D5S818, D13S317, D7S820

Allele and genotype frequencies for the nine loci D3S1358, vWA, FGA, D8S1179, D21S11, D18S51, D5S818, D13S317 and D7S820 were determined for 310 unrelated Turkish individuals.     

Allele frequencies for nine STR loci (D3S1358, vWA, FGA, D8S1179, D21S11, D18S51, D5S818, D13S317, D7S820) in the Italian population

Genotype and allele frequencies for STR loci D3S1358, vWA, FGA, D8S1179, D21S11, D18S51, D5S818, D13S317, D7S820 were investigated in 289 unrelated Italian Caucasian individuals from the North and South regions. After co-amplification by polymerase chain reaction, automatic DNA profiling of these nine STR loci was performed by ABI PRISM((R)) 310 DNA Genetic Analyzer. For each locus, statistical parameters for forensic and paternity purposes were then calculated; the combined power of discrimination and the combined power of exclusion of all nine loci were 0.9999999999917 and 0.99992 for the Northern population and 0.9999999999921 and 0.99991 for the Southern population.     

Unusual FGA and D19S433 off-ladder alleles and other allelic variants at the STR loci D8S1132, vWA, D18S51 and ACTBP2 (SE33)

A very short FGA allele *14 and a long D19S433 allele *19.2 were detected and sequenced, as well as the new D8S1132 alleles *12.1, *14 and *15.1. Further new sequence data (vWA allele *18.3, D18S51 allele *11.2, SE33 alleles *24.2, *32, *34 and *37, including the rare variant allele *13.2) are described.     

北京地区汉族人群6个STR基因座的遗传多态性

目的对北京地区汉族人群遗传数据进行调查研究。方法利用PCR自动化检测技术检测中国北京地区汉族人群D1S1656,D10S2325,D11S2368,D12S391,D14S1434及GATA198B05共6个STR基因座的遗传多态性,获得6个STR基因座的群体遗传学数据,评价其法医学应用价值。结果6个STR基因座的个体鉴别力（Discrimination power,DP）在0．9777-0．8769之间,多态性信息含量（Polymorphism information content,PIC）在0．6867-0．8801之间,杂合度（Heterozygosity,H）在0．7219～O．8684之间,非父排除率（Probability of paternity exclusion,PE）在0．4456-0．6793之间,累积个体鉴别力为0．99999997,累积非父排除率为0．995765192。结论6个STR基因座等位基因频率分布均匀,多态性高,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。     

Population genetic studies on the tetrameric short tandem repeat loci D3S1358, VWA, FGA, D8S1179, D21S11, D18S51, D5S818, D13S317 and D7S820 in Egypt.

The short tandem repeat loci (STRs) D3S1358, VWA, FGA, D8S1179, D21S11, D18S51, D5S818, D13S317, D7S820 and a locus allowing for sex-discrimination (amelogenin) can be co-amplified by the polymerase chain reaction using a commercially available kit (AmpFlSTR Profiler plus, Perkin-Elmer Biosystems, San Jose, CA) and subsequently typed using capillary electrophoresis (ABI Prism 310 Genetic analyzer, Perkin Elmer Applied Biosystems, San Jose CA). To establish databases for these loci for an Arab population sample from Egypt, 140 unrelated persons were typed. Analysis of these data revealed that all loci except for VWA were in Hardy-Weinberg equilibrium, that the combined mean paternity exclusion chance (MEC) was 0.999875 and that the combined discriminating power (DP) was 2.635 x 10(-11). The allelic distributions found in the Egyptian sample were significantly different at four loci from those found for an Austrian Caucasian population, at all nine loci from an African-American sample and at six of six loci from a Chinese sample. No evidence of linkage equilibrium between any of the co-amplified loci was found. Our results support that the combination of multiplex PCR and capillary electrophoresis can both save time and yield excellent results for paternity testing and stain analysis.     

Developmental validation of a single-tube amplification of the 13 CODIS STR loci, D2S1338, D19S433, and amelogenin: the AmpFlSTR Identifiler PCR Amplification Kit

Analysis of length polymorphism at short tandem repeat (STR) loci utilizing the polymerase chain reaction (PCR) process has proven to be an ideal assay for human identification purposes. The short length of STR loci coupled with the amplification of target sequence through PCR allows for a robust, sensitive, and specific assay for highly polymorphic markers. A multiplex containing fifteen STR loci plus the gender-determining locus Amelogenin was developed to provide a single amplification/detection of all CODIS (Combined DNA Index System) STR loci (CSF1PO, D3S1358, D5S818, D7S820, D8S1179, D13S317, D16S539, D18S51, D21S11, FGA, TH01, TPOX, and vWA) as well as two internationally-accepted STRs (D2S1338 and D19S433). By incorporating five-dye fragment analysis technology and non-nucleotide linkers, previously optimized AmpFlSTR kit primer sequences have been maintained. This kit has been developed in accordance with the standards of the forensic community as defined by the DNA Advisory Board. Validation studies were performed to include developmental validation, and the results support the use of the AmpFlSTR Identifiler PCR Amplification Kit for human identity and parentage testing.     

3个miniSTR基因座在湖南汉族人群中的遗传多态性

目的建立扩增片段小于120bp,包括D10S1248、D2S441和D1S16773个miniSTR基因座的复合扩增系统,并调查其在湖南汉族人群中的遗传多态性。方法采用不同荧光染料标记引物,通过PCR扩增,利用ABI 310遗传分析仪对186份无关个体血样进行3个miniSTR基因座片段长度分析。结果D10S1248、D2S441和D1S1677 miniSTR基因座均获得了清晰的基因分型结果,经对186名无关个体进行分析,分别检出9、7、7个等位基因和21、19、15种基因型,基因型分布符合Hardy-Weinberg平衡。3个基因座在湖南汉族人群的非父排除率和个体识别力分别为0．465、0．491、0．361和0．886、0．899、0．818。结论建立的3个miniSTR基因座扩增系统在DNA高度降解检材分析中具有较高的应用价值,并且在湖南汉族人群中具有较好的遗传多态性,可应用于个体识别和亲权鉴定。     

Distribution of HLA-DQA1, polymarker, CSF1PO, vWA, TH01, TPOX, D16S539, D7S820, D13S317, and D5S818 alleles in East Bengali and West Punjabi populations from Indo-Pak Subcontinent

Blood samples were collected from 115 individuals residing in the Pakistani state of West Punjab and 81 Bengali individuals residing in the state of East Bengal, India. These samples were analyzed for the loci HLA-DQA1, PM (LDLR, GYPA, HBGG, D7S8, and GC) and eight short tandem repeats: CSF1PO, TPOX, THO1, vWA, D16S539, D7S820, D13S317, and D5S818. Departures from Hardy-Weinberg (HWE) were observed in Punjabi population at LDLR, THO1, D13S317, D5S818, and D16S539 and at CSF1PO and THO1 in Bengali population.     

Population data of nine STR loci,D3S1358, vWA,FGA, TH01, TPOX,CSF1PO,D5S818, D13S317 and D7S820, in Bangladeshis and Indonesians

Allele frequencies of nine short tandem repeat (STR) loci, D3S1358, vWA, FGA, TH01, TPOX, CSF1PO, D5S818, D13S317 and D7S820, were determined for 127 unrelated Bangladeshi individuals and 105 unrelated Indonesian individuals using the AmpFLSTR Profiler Kit. The genotype frequency distributions of the nine STR loci were in the Hardy-Weinberg equilibrium for both populations.     

复合扩增D16S539、D7S820、D13S317基因座的DNA分型及法医学应用

通过对3个位于不同染色体上的STR基因座（D165539,D7S820,D13S317）所组成的复合扩增体系的DNA分型研究,以期在实际法医物证检验中增加检验基因座,以提高总的个体识别率。笔者运用复合扩增技术,经4％变性聚丙烯酸胺凝胶电泳分离扩增产物和银染检测,首次对108个无关中国人个体的D16S539,D7S820,D13S317基因座进行研究,检测出中国人群中3个基因座的等位基因数均为7个;偶合率P（m）分别为0．0847、0．0740、0．0741;个体识别率DP值分别为0．9153、0．9260、0．9259;杂合度分别为77．7％、79.1％、79．3％;各基因座亲子关系指数PItypical分别为2．24、2．39、2．42。3个STR基因座总的个体识别率很高,达0．9995;总的亲子关系指数PItypical达12．96;所有基因座经卡方检验符合Hardy－Weinberg平衡。通过以上数据可以看出,D165539,D7S820,D13S317基因座所组成的复合扩增体系在中国人群中等位基因分布较好,个体识别率很高,适合用于法医个体识别及亲子鉴定。     

New alleles and mutational events in D12S391 and D8S1132: sequence data from an eastern German population.

To investigate the DNA mutation rate and pattern in the hypervariable short tandem repeat (STR) locus D12S391 and in the locus D8S1132, samples from an eastern German population (Dresden area) were analysed. A duplex PCR was applied, using short amplification products for D12S391 (129-177bp) and a modified reverse primer for D8S1132 (127-182bp). The sequences of some rare and new variant alleles are described. At the locus D12S391, 13 regular and six incomplete alleles with different lengths were found, exhibiting several sequence structures. Two isolated father/child mismatches were observed in a total of 648 meioses. Novel alleles 13.1, 14.1 and 27 were discovered at the locus D8S1132. Three parent/child mismatches were found in a total of 672 meioses.     

武汉汉族人群STR基因座D3S1358、D13S317、D12S391的多态性研究

目的　调查中国武汉地区汉族人群STR基因座—D3S1 358、D1 3S31 7、D1 2S391基因频率分布和群体遗传数据。方法　从 2 0 8个汉族无关个体收集血液标本 ,应用PCR技术及聚丙烯酰胺凝胶垂直板电泳对D3S1 358、D1 3S31 7和D1 2S391基因座分型。结果　D3S1 358检出 7个等位基因和 4 1个基因型。三基因座基因型分布符合Hardy-Weinberg平衡。观察 2 31次减数分裂均未发现突变基因。另外 ,调查结果计算显示D3S1 358、D1 3S31 7和D1 2S391基因座的杂合度 (H)分别为 0 70 98、 0 80 56和 0 84 0 0 ;三个人识别能力 (DP)分别为 0 851 6、 0 9332和 0 952 3;非父排除率 ( pE)分别为 0 4 463、 0 60 1 6和 0 681 8。结论　D3S1 358、D1 3S31 7和D1 2S391基因座在群体遗传学研究和法医学亲子鉴定及个人识别中具有较高实用价值     

Distribution of THO1, TPOX, CSF1PO, vWA, D13S317, D7S820 and D16S539 alleles in a Turkish population sample.

Allele frequencies of seven short tandem repeats (THO1, TPOX, CSF1PO, vWA, D13S370, D7S820 and D16S539) were obtained from a sample of 165-213 unrelated individuals born in Central Anatolia region of Turkey     

Spanish population data on the loci D13S317, D7S820, and D16S539 generated using silver staining (SilverSTR III Multiplex).

A set of 212 samples from unrelated Spanish Caucasians living in Andalucia (southern Spain) were analyzed with a new commercially-available kit for multiplex amplification of 3 STR loci (D13S137, D7S820, and D16S539), manual denaturing polyacrylamide gel electrophoresis and silver staining. These three loci are of special interest for the forensic community since they are a part of the 13 CODIS-core STR loci. The results show that the loci D13S317 and D16S539 meet Hardy-Weinberg expectations (HWE), but the locus D7S820 did not meet HWE (p = 0.003). However, there was no detectable departures from independence (i.e., linkage disequilibrium) between any pair-wise combination of loci. The D7S820 data were further investigated. The excess homozygosity was due to an excess of D7S820 10, 10 homozygotes. To determine if the allele frequency data are meaningful and can be applied to forensic identity cases, the Spanish D7S820 allele frequency data were compared with four other Caucasian sample populations. The D7S820 allele frequencies were statistically similar; thus, the results support that the allele frequency data can be used reliably for estimating DNA profile frequencies.     

Population genetics of the D1S1656, D12S391, and D18S535 loci in Asturias (North Spain)

Allele and genotype frequencies for three recently described short tandem repeat loci D1S1656, D12S391, and D18S535 were determined in a population sample from Asturias (North Spain). The loci were amplified using a fluorescence based PCR method and were typed automatically. No deviation from Hardy-Weinberg expectations were observed. The three loci proved to be highly discriminating and the allele frequencies observed are similar to those of the other European populations that have been typed for these loci to date.     

Polymorphism of LDLR, GYPA, HBGG, D7S8, GC, HLA-DQA1, Ig-JH, D17S30, ApoB and D1S80 loci in northwestern Russians

Allele frequencies for polymarker, HLA-DQA1, Ig-JH, D17S30, ApoB and D1S80 loci and population genetic parameters were obtained from a sample of 501 unrelated individuals born in the northwestern Federal Region of Russia.     

Genetic data on nine STRs (CSF1PO, TPOX, THO1, F13AO1, FESFPS, vWA, D16S539, D7S820 and D13S317) and two VNTRs (D1S80 and D17S5) in Rosario population, Santa Fe Argentine

Allele frequencies for nine short tandem repeats (STRs) loci (CSF1PO, TPOX, THO1, F13AO1, FES/FPS, vWA, D16S539, D7S820 and D13S317) and two variable number tandem repeats (VNTRs) were obtained from a sample of 270 unrelated individuals born in the Rosario city, Santa Fe province of Argentina.