Italian population data on two new short tandem repeat loci: D2S1338 and Penta E

A population study on two new short tandem repeat (STR) loci D2S1338 (a tetranucleotide repeat) and Penta E (a pentanucleotide repeat) was performed on 208 unrelated Italian Caucasians. The DNA was amplified by polymerase chain reaction (PCR) and separation and detection of the amplified STR fragments were carried out by use of a PE/ABD PRISM 377 DNA Sequencer 377 automated system (Applied Biosystems Division/Perkin-Elmer). Both loci meet Hardy-Weinberg expectations. There is no evidence for departures from expectations between the two loci. The combined Probability of Discrimination and Probability of Exclusion for the two STR loci are 0.999155 and 0.944925, respectively. The results demonstrate that these two regions can be useful for differentiating among individuals, particularly in concert with other STR loci.     

Italian population data on thirteen short tandem repeat loci: HUMTH01, D21S11, D18S51, HUMVWFA31, HUMFIBRA,D8S1179, HUMTPOX,HUMCSF1PO,D16S539, D7S820, D13S317, D5S818, D3S1358

A population study on thirteen short tandem repeat (STR) loci was performed on 223 unrelated Italian Caucasians. The DNA was amplified by PCR. Separation and detection of the amplified STR fragments was carried out by use of 377 automated system (Applied Biosystems Division/Perkin Elmer). All loci meet Hardy–Wienberg expectations, and the data show only five departures out of seventy-eight pairwise locus tests which is close to expectations of 5% (5/78=6.4%). When correcting for multiple tests, there is little evidence for departures from expectations between loci. The combined Power of Exclusion for the thirteen STR loci is 0.99999270. The results demonstrate that these loci will be very useful for human identification in forensic cases in Italy.     

Swiss Caucasian population data for the STR loci D2S1338 and D19S433 using the AmpFISTR SGM plus PCR amplification kit

Allele and genotype frequencies for the ten STR loci D3S1358, VWA, D16S539, D2S1338, D8S1179, D21S11, D18S51, D19S433, TH01, FGA were determined in a Swiss Caucasian population sample (n=206) using the AmpFISTR SGM Plus Amplification kit. Electrophoresis was carried out on an ABI PRISM CE 310 Genetic Analyzer instrument. Previously, allele frequencies were published for the 13 STR loci D3S1358, VWA, FGA, D8S1179, D21S11, D18S51, D5S818, D13S317, D7S820, THO1, TPOX, CSF1PO and D16S539 for the same samples (n=206) amplified with the AmpFISTR Profiler Plus and Cofiler PCR Amplification kits. Since the results for the eight loci D3S1358, VWA, FGA, D8S1179, D21S11, D18S51, THO1, D16S539 shared between the AmpFISTR SGM Plus, Profiler Plus and Cofiler PCR Amplification kits already are published, only the allele frequencies for the two STR loci D2S1338 and D19S433 are reported in this paper. The two loci meet Hardy-Weinberg expectations. In addition, there is little evidence for association of alleles among the 15 loci (amplified with the Profiler, Cofiler, and SGM Plus amplification kits). The allelic frequency data can be used in forensic analyses to estimate the frequency of a multiple STR locus DNA profile in the Swiss population.     

D3S1754、D18S535基因座在中国北方汉族的多态性分析

目的 了解D3S1754、D18S535基因座多态性在中国北方人群中的分布特点及其应用价值。方法 使用PCR、聚丙烯酰胺垂直板电泳及银染的方法。结果D3S1754基因座检出9个等位基因（n=184）,D185535基因座检出8个等位基因（n=201）,两个位点的等位基因频率在群体中的分布符合Hardy-Weinberg平衡（P>0.05）,它们的杂合率（He）分别为0.706和0.807,个人识别机率（DP）分别是0.859和0.934,非父排除率（EPP）分别为0.464和0.629。结论 D3S1754、D18S535两个遗传标记的个人识别率高、非父排除能力较强且能稳定遗传,具有较高的应用价值。     

武汉汉族人群D20S85和D6S477基因座遗传多态性调查

目的对武汉地区280名汉族无关个体的D20S85和D6S477位点遗传多态性进行调查,研究其在法医学检验中的应用价值。方法应用PCR和PAGE技术进行分型检验。结果分别检出10个、9个等位基因,获得各等位基因在该地区汉族人群分布频率,基因型频率分布符合Hardy-Weinberg平衡。两位点的DP值分别为0.9085、0.9127。结论D20S85和D6S477是法医学中重要的遗传标记。     

Population frequency for the short tandem repeat loci D18S849, D3S1744, and D12S1090 in Caucasian-Mestizo and African descent populations of Colombia

Blood samples from 489 unrelated Caucasian Mestizo and 252 individuals of African descent in Colombia were amplified and typed for three short tandem repeat (STR) markers (D12S1090, D3S1744, and D18S849). All markers conformed to Hardy-Weinberg equilibrium expectations in both populations studied. In addition, heterozygosity, mean exclusion chance, polymorphism information content, discrimination power, and the assumption of independence within and between loci were determined. The mean exclusion chance for all three STR markers is 0.9750 in the Caucasian Mestizo population and 0.9731 in the African Colombian Population. The discrimination power is 0.999925 and 0.999911 in the Caucasian Mestizo and African Colombian respectively.     

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.     

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.     

STR位点D19S253和D8S1179的法医学意义及应用研究

为评估STR位点D19S253和D8S1179的法医学应用价值，应用PCR和PAG垂直电泳技术对两位点的种属特异性，检测灵敏度，以及同一个体不同组织分型的同一性及不同基质和不同保存时间的斑痕分型等与法医应用有关的问题进行了研究，D19S253和D8S1179位点的检测灵敏度分别为0．25ng及0．5ng，同时两位点具有较高的种属特异性，同一性及较好重复性，且能够复合扩增，表明D19S253和D8S1179是法医学检案中较实用的两个STR标记。     

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.     

The analysis of three short tandem repeat (STR) loci in the Slovene population by multiplex PCR

Allele frequencies for three tetrameric short tandem repeat (STR) loci D3S1358, HUMVWA, and HUMFGA were determined in a Slovene Caucasian population sample. DNA samples from a total of 221 Slovenes were amplified by multiplex PCR using the commercial kit AmpFISTR Blue (Perkin-Elmer). Separation and detection of the amplified STR fragments were carried out using a 377 automated genetic analyzer (Applied Biosystem Division/Perkin Elmer). Seven alleles at the D3S1358 locus, 8 alleles at the HUMVWA31A locus, and 13 alleles at the HUMFGA locus were observed. A deviation from Hardy-Weinberg equilibrium was observed, only at the HUMVWA31A locus (p = 0.045, exact test). The departure at this locus was not significant after Bonferroni correction. There were no detectable departures between pairwise comparisons of the loci. The combined power of discrimination for all three loci is 0.9998, and the power of exclusion is 0.9526. The observed allele frequencies for the loci D3S1358, HUMVWA31A, and HUMFGA are similar to those in European and U.S. Caucasian populations.     

D6S1043和D12S391基因座在亲权鉴定中的应用

目的研究D6S1043和D12S391基因座在亲权关系鉴定案件中的应用价值。方法应用荧光标记复合扩增系统对日常检案中所收集的192名汉族无关个体血样DNA进行PCR扩增,用ABI3100-Avant遗传分析仪对扩增产物进行毛细管电泳,用GeneMapperv3.2软件进行基因分型,统计分析D6S1043和D12S391基因座的多态信息。结果在D6S1043和D12S391基因座分别发现12个等位基因,它们在中国汉族人群中的个体识别能力分别为0.9656和0.9510,二联体非父排除率分别为0.573和0.510,三联体非父排除率分别为0.731和0.679。结论D6S1043和D12S391基因座具有高度多态性,在亲权鉴定中具有重要应用价值。     

Fluorescent multiplex analysis of nine STR loci: Spanish population data

A total of 171 Caucasians living in Andalucia (southern Spain) have been typed for nine short tandem repeat (STR) loci by multiplex PCR amplification using a commercially available kit (Profiler Plus; Perkin–Elmer, Norwalk, CT, USA) and semi-automatic electrophoresis (ABI Prism 377 DNA Sequencer, Applied Biosystems, Foster City, CA, USA). The kit enables typing of the STR loci D3S1358, VWA, FGA, D5S818, D13S317, D7S820, D8S1179, D21S11, and D18S51. All loci, except D7S820, meet Hardy–Weinberg equilibrium. Because of the large number of loci that can be analyzed, the power of discrimination (PD) is greater than 0.99999, and the probability of exclusion (PE) reaches 0.99991 in our population sample.     

中国汉族人群15个STR基因座的等位基因频率调查

目的 调查10071名中国汉族无关个体15个STR基因座的等位基因的类型及其频率，并与以往相关文献报道的汉族群体资料进行统计比较。方法 应用PowerPlex~(TM)16荧光标记复合扩增系统，对10071份中国汉族无关个体的血样DNA进行15个STR基因座的复合扩增；用ABI 377或3100遗传分析仪对扩增产物进行分型，统计15个STR基因座的基因频率。结果 15个STR基因座共发现226个等位基因，频率在0.0001～0.5512；除D8S1179基因座外，其它基因座均发现稀有等位基因，数目1～7个不等，共34个。在中国汉族人群，稀有D21S11基因座的等位基因32.1和36.2，D18S51基因座的等位基因15.2和17.2，Penta E基因座的等位基因15.2、17.4、18.4、19.4、26和27，D7S820基因座的等位基因9.2、10.1、11.1和15，Penta D基因座的等位基因18、19和20，TPOX基因座的等位基因14，FGA基因座的等位基因13，以及较常见但欧洲稀有的D21S11基因座的等位基因30.3和D7S820基因座的等位基因9.1和9.2等均为首次报道。结论 大样本基因频率调查有利于观察STR基因座的稀有等位基因；本研究结果与以往相关文献报道的结果有不同程度的差异。     

岫岩满族9个STR基因座遗传多态性

目的用复合荧光扩增体系调查辽宁鞍山岫岩满族无关个体D6S1043、D7S3048、D9S925、D11S2368、D14S608、D15S659、D17S1290、D20S470和GATA198805等9个STR基因座的遗传多态性。方法用本实验室构建的9个常染色体STR基因座荧光复合扩增体系．对辽宁鞍山岫岩满族252个...     

Co-amplification of ENFSI-loci D3S1358, D8S1179 and D18S51: validation of new primer sequences and allelic distribution among 2874 individuals

The present communication presents a new triplex PCR co-amplifying three loci (D3S1358, D8S1179 and D18S51) recommended for STR typing by the European Network of Forensic Science Institutes (ENFSI). Twenty-two different primers were tested to optimise the PCR. Four of the six primer sequences finally chosen were self selected, the fifth was a published one and the sixth derived from a commercially available multiplex kit. Using this PCR-setup, even minimum amounts of genomic DNA are sufficient to analyse the STR loci D3S1358, D8S1179 and D18S51 in parallel. Especially in forensic casework, where DNA is mostly limited and often contaminated with enzyme inhibitors, this new PCR proved to be very advantageous. To demonstrate the reliability, buccal swabs from 2874 persons were typed not only with the new triplex PCR but also with a commercially available multiplex kit.     

PowerPlex 21与GoldeneyeTM 20A试剂盒的一致性验证及法医学应用

目的：确认PowerPlex 21试剂盒与GoldeneyeTM 20A试剂盒分型结果的一致性。方法应用两试剂盒对205名北京汉族无关个体血样DNA进行复合扩增,观察19个重叠STR基因座分型的一致性,并统计D1S1656的遗传多态性。结果所有19个重叠基因座分型相同,两个试剂盒的杂合基因座峰高比例差异无统计学意义（P〉0.05）。D1S1656杂合度为0.878,个人识别率为0.949,三联体非父排除率为0.751,二联体非父排除率为0.506,多态信息含量为0.810。结论 PowerPlex21试剂盒与GoldeneyeTM 20A试剂盒分型结果一致性好,引物设计合理;D1S1656多态性好,可用于人类遗传分析及法医学中的亲子鉴定和个人识别。     

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.     

中国汉族人群 8个 STR位点荧光标记同步检测及其频率分布

目的 对血液等微量生物学检材进行 8个 STR多态性位点及一个性别鉴定位点的复合检测 ,并调查了 350名中国汉族无关个体上述基因位点等位基因分布情况。方法 所选位点为 vWA、 TH01、 TPOX、 CSF1PO、 D5S818、 D13S317、 D7S820、 D16S539及性别鉴定位点 Amelogenin,应用荧光染料标记引物,利用 PE－ 377 DNA片段分析仪对扩增产物进行基因分型。结果 共检出 63个等位基因及两个性别决定基因 ,总鉴别机率（ TDP）值达 99.999 999 98％,对法医学常见极微量生物学检材的检测获得成功, DNA模板需要量为 0.5～ 1.0ng,通过家系调查,证明上述位点遗传稳定,符合孟德尔遗传规律。结论 上述 8个 STR多态性位点具备了个体认定能力 ,是对微量生物学检材进行个体识别鉴定的理想方法。     

成都汉族、甘肃东乡族群体D10S1432和D10S1213 位点的遗传多态性分析

目的本研究的目的是了解人类基因组中D10S1432及D10S1213两个STR位点在成都汉族和甘肃东乡族群体中的遗传多态性分布及两个群体之间的关系。方法采用PCR、聚丙烯酰胺凝胶电泳及银染技术,共调查了209例样本。结果在D10S1432位点上观察到5个等位基因,15种基因型。在D10S1213位点上观察到9个等位基因,31种基因型。两位点的基因型频率在调查的两个群体中的分布符合Hardy-Weinberg平衡定律（P>0.05）。经统计,D10S1432在这两个群体中的杂合度为0.664和0.737,个人识别几率为0.827和0.820。D10S1213的杂合度为0.664和0.657,个人识别几率为0.836和0.882。结论结果表明,D10S1432和D10S1213两个位点在法医学个人识别和亲子鉴定中有较高应用价值。