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     

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.     

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。     

温州汉族人群D12S391、D18S865基因座遗传多态性研究

目的研究短串联重复序列D12S391、D18S865的遗传多态性及法医学应用价值。方法应用聚合酶链反应(PCR)、聚丙烯酰胺凝胶电泳(PAGE)及银染显带技术对温州地区汉族454名无关个体的D12S391、D18S865位点进行分型。结果D12S391观察到11个等位基因,50种基因型;D18S865观察到7个等位基因,21种基因型。基因型频率的分布符合Hardy-Weinberg平衡,两个基因座的观测杂合度(H)分别为0.7974、0.7379;个体识别能力(DP)分别为0.9566、0.9077;多态信息含量(PIC)分别为0.8260、0.7279。结论两个STR基因座具有较高杂合度,等位基因分布符合Hardy-Weinberg平衡(P>0.5),在法医学应用和群体遗传学研究中较高的价值。     

Allelic distribution of four tetranucleotide repeat loci (D3S1358, D18S51, D19S253, and FGA) in a population from Porto (North Portugal)

Allele frequencies for four short tandem repeat loci were determined in a population sample from Porto (North Portugal), using the polymerase chain reaction (PCR), in order to investigate possible genetic differences between populations from the center and north of Portugal. After denaturing PAGE electrophoresis, nine alleles were identified for D3S1358 (n = 256), 13 alleles for D18S51 (n = 235), 10 alleles for D19S253 (n = 238), and 15 alleles for FGA (n = 181). No deviations from Hardy-Weinberg equilibrium were found. The allele frequencies observed are similar to those of the Portuguese population compared except for the D3S1358 system.     

Additional variability at the D12S391 STR locus in an Austrian population sample: sequencing data and allele distribution

The highly polymorphic STR locus D12S391 was investigated in an Austrian population sample (N=150) by PCR-amplification, comparative detection on native and denaturing polyacrylamide gels and solid phase single stranded sequencing of three size variant alleles and several additional alleles. A total of 15 alleles, distinguishable by size under denaturing conditions, could be detected. No deviations from Hardy-Weinberg equilibrium were observed in the population investigated (P=0.52). Sequencing of size variants designated 17.3 and 18.3 showed an incomplete (GAT) repeat unit at position two of the tandem region. Additional new sequence variants due to varying compositions of the number of (AGAT) and (AGAC) repeats could be identified. Due to distinct electrophoretical mobilities of alleles of the same size but different sequence structures, denaturing detection conditions should be employed when the aim is standardization.     

Analysis of the co-amplified STR loci D1S1656, D12S391 and D18S51: population data and validation study for a highly discriminating triplex-PCR

A multiplex-PCR composed of the three highly variable STR loci D1S1656, D12S391 and D18S51 has been established. The non-overlapping fragment sizes allow allele detection using a monochrome automated laser fluorescent sequencer (A.L.F. express, Pharmacia Biotech). The typing results of the triplex-PCR showed no difference to those of singleplex-PCR. Allele frequencies were determined in a Western German population of 228 individuals from Cologne. The heterozygosities and exclusion chances (D1S1656, 0.982; D12S391, 0.979; D18S51, 0.97) are very high compared to other short tandem repeats used for forensic applications. No deviations from the Hardy-Weinberg equilibrium were found. Successful typing of DNA amounts down to 50-100 pg is possible. Mixtures of up to 1:10 can be identified. In conclusion, the high combined exclusion chance due to the well-balanced allelic distribution and its high sensitivity make this triplex-PCR a valuable tool for forensic casework.     

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.     

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.     

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。     

Analysis of global variability in 15 established and 5 new European Standard Set (ESS) STRs using the CEPH human genome diversity panel

The CEPH human genome diversity cell line panel (CEPH-HGDP) of 51 globally distributed populations was used to analyze patterns of variability in 20 core human identification STRs. The markers typed comprised the 15 STRs of Identifiler, one of the most widely used forensic STR multiplexes, plus five recently introduced European Standard Set (ESS) STRs: D1S1656, D2S441, D10S1248, D12S391 and D22S1045. From the genotypes obtained for the ESS STRs we identified rare, intermediate or off-ladder alleles that had not been previously reported for these loci. Examples of novel ESS STR alleles found were characterized by sequence analysis. This revealed extensive repeat structure variation in three ESS STRs, with D12S391 showing particularly high variability for tandem runs of AGAT and AGAC repeat units. The global geographic distribution of the CEPH panel samples gave an opportunity to study in detail the extent of substructure shown by the 20 STRs amongst populations and between their parent population groups. An assessment was made of the forensic informativeness of the new ESS STRs compared to the loci they will replace: CSF1PO, D5S818, D7S820, D13S317 and TPOX, with results showing a clear enhancement of discrimination power using multiplexes that genotype the new ESS loci. We also measured the ability of Identifiler and ESS STRs to infer the ancestry of the CEPH-HGDP samples and demonstrate that forensic STRs in large multiplexes have the potential to differentiate the major population groups but only with sufficient reliability when used with other ancestry-informative markers such as single nucleotide polymorphisms. Finally we checked for possible association by linkage between the two ESS multiplex STRs closely positioned on chromosome-12: vWA and D12S391 by examining paired genotypes from the complete CEPH data set.     

Population genetics of the STR loci HUMCSF1PO, HUMF13A01, HUMFES/FPS and D12S391 in Asturias (northern Spain)

In order to use genetic loci in forensic identity testing, some population data are needed. This paper presents a report of allele frequency data for the loci HUMCSF1PO, HUMF13A01, HUMFES/FPS and D12S391 in a population sample from Asturias (northern Spain).No deviation from the Hardy-Weinberg equilibrium was detected in any of the four markers investigated and there was no evidence of association between the alleles of these loci. Statistical analysis was also carried out to obtain some parameters of medico-legal interest and comparative studies were carried out with other populations studied to date for these loci. The Asturian sample does not differ substantially from other Caucasian and Spanish populations.     

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.     

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。     

Allelic structure and distribution of two STR loci, D8S580 and D22S442, in the Japanese population

The allelic frequency and structural characteristics of two STR loci D8S580 and D22S442 were investigated using blood samples from 143 unrelated healthy Japanese individuals. Thirty-eight alleles in D8S580 locus and 13 alleles in D22S442 locus were identified. The discrimination power, heterozygosity, and the polymorphic information content of those loci displayed high values (0.98, 0.88, and 0.87 in D8S580 and 0.97, 0.86 and 0.85 in D22S442), and their frequency distributions met Hardy-Weinberg equilibrium expectations. The allelic pattern of D8S580 was complex and differentiated into three groups (group I: alleles 184-194bp; group II: alleles 203-223, 235, 239, 243, 252 and 255bp; group III: alleles 227-286bp). Most of their alleles contained five categories of repeat units (A: aaaag; B: aaag; C: aagg; D: caag; E: agaa). On the other hand, D22S442 contained only two types of repeat units (A: agga; B: aggg). The present study, hence, proves that both D8S580 and D22S442 are highly polymorphic and represent stable genetic markers applicable to forensic investigations.     

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。     

Further allelic variation at the STR-loci ACTBP2 (SE33), D3S1358, D8S1132, D18S51 and D21S11

ACTBP2 (SE33), D3S1358, D8S1132, D18S51 and D21S11 are frequently used STR-loci in the forensic field. This study reports sequence data of further new or rare alleles at these loci, varying in length or in sequence, which were detected in course of investigations for various purposes.     

华东地区汉族人群D2S1399和D5S2500基因座的遗传多态性研究

目的研究D2S1399和D5S2500基因座在中国华东地区汉族群体遗传多态性。方法应用PCR、聚丙烯酰胺垂直电泳及银染技术检测D2S1399和D5S2500基因座的遗传多态性。结果D2S1399和D5S2500基因座在中国华东汉族群体分别检出11个和9个等位基因,其观察杂合度(Ho)分别为0.745和0.807,多态信息含量(PIC)分别为0.850和0.750,个体识别能力(DP)分别为0.958和0.917,非父排除率(PE)分别为0.554和0.643。结论D2S1399和D5S2500两个基因座是高度多态性STR基因座,在法医学中有重要应用价值。     

The Slovenian population data on the PCR based loci HLA-DQA1, LDLR, GYPA, HBGG, D7S8, GC, and D1S80

Allele frequencies for the loci HLA-DQA1, LDLR, GYPA, HBGG, D7S8, GC, and D1S80 were determined for a sample population of unrelated individuals from Slovenia. All loci meet Hardy-Weinberg expectations, except the loci GYPA (p = 0.041) and D1S80 (p = 0.009). There is little evidence for association of alleles among the seven loci. Only one out of 21 pairwise comparisons demonstrated departures from independence (HLA-DQA1/HBGG, p = 0.008). The allelic frequency data generally are similar to that of U.S. Caucasians.     

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.