Genetic variation at six STR loci (HUMTH01, HUMTPOX, HUMCSF1PO, HUMF13A01, HUMFES/FPS, HUMVWFA31) in Aragon (north Spain).

The STR loci HUMTH01, HUMPTPOX, HUMCSF1PO, HUMF13A01, HUMFES/FPS and HUMVWFA31 are widely used in forensic casework analyses and population data are necessary to estimate the frequency of a DNA profile. This paper presents the results of a survey aimed to investigate the allele frequency distribution of these loci in an important Spanish population (Aragon, North Spain). Statistical analysis to determine whether allele frequencies were in Hardy-Weinberg Equilibrium was carried out and also to obtain some parameters of medico-legal interest. There was no evidence of association between the alleles of the loci. The Aragonese sample does not differ substantially from other Caucasian populations.     

Allele frequencies of nine STR loci--D16S539, D7S820, D13S317, CSF1PO,TPOX, TH01, F13A01, FESFPS and vWA--in the population from Alagoas,northeastern Brazil

The polymorphism of nine STR loci has been studied in a sample of 598 individuals from the population of Alagoas, Northeastern Brazil. Determination of the allele frequencies as well as of several commonly used statistics in forensic and paternity testing were defined. The most polymorphic loci were TH01 and D7S317. The exact test demonstrated that the nine loci analyzed in the population have no deviation from Hardy-Weinberg equilibrium (P > 0.05).     

Population frequency distribution of HumF13A01, HumFXIIIB, and HumLIPOL loci in the Basque Country (Northern Spain)

A population study of unrelated individuals from the Basque Country (Northern Spain) was carried out using the GenePrint STR System. The PCR products were separated on denaturing polyacrylamide gels and visualized by silver staining. Three tetrameric loci were evaluated: HumF13A01, HumFXIIIB, and HumLIPOL. All loci fit Hardy-Weinberg expectations, and independence of alleles was found between these STR loci. A comparison with other population groups indicated allele frequencies are well conserved in Caucasians, but differ from other racial groups. The calculated parameters a priori probability of exclusion (Pex) and "power of discrimination" (PD) show how informative these loci are for the determination of identity and relatedness of individuals.     

Allele frequencies of nine STR loci—D16S539, D7S820, D13S317, CSF1PO, TPOX, TH01, F13A01, FESFPS and vWA—in the population from Alagoas, northeastern Brazil

The polymorphism of nine STR loci has been studied in a sample of 598 individuals from the population of Alagoas, Northeastern Brazil. Determination of the allele frequencies as well as of several commonly used statistics in forensic and paternity testing were defined. The most polymorphic loci were TH01 and D7S317. The exact test demonstrated that the nine loci analyzed in the population have no deviation from Hardy–Weinberg equilibrium (P>0.05).     

A novel fluorescent quadruplex STR typing system and the allele frequency distributions in a Thai population

We have previously reported a new triplex amplification and typing system by silver staining for three short tandem repeat (STR) loci, 9q2h2 (D2S3020), D15S233, and D14S299 without "microvariant" alleles such as .1, .2, and, .3 alleles in the Japanese population. In the present study, we established a new quadruplex system with an additional locus D7S809 using primer sets labeled with fluorescent multi-color dyes. Using this system, we genotyped 183 Thai people, found only one "microvariant" allele (allele 20.2) at D7S809, and calculated allele frequencies and some statistical properties at these four STR loci. From these allele frequencies at four STR loci, we performed three statistical analyses including a homozygosity test, a likelihood ratio test, and an exact test for Hardy-Weinberg equilibrium (HWE). Deviations from HWE (p < 0.05) were observed only in the two tests at the locus D7S809. In the present study, we compared the allele frequencies at these four loci in the Thai population to those in the Japanese population described previously. Consequently, all observed heterozygosities and power of discrimination (PD) at those loci in the Thai population were higher than 0.8 and 0.9, respectively, and all statistical values for discriminating power in the Thai population were slightly higher than those in the Japanese population. The combined paternity exclusion rate (combined PE) in the Thai population (0.978) was almost the same as that in the Japanese population (0.971). Therefore, this novel PCR amplification and typing system for four STR loci would be a convenient and informative DNA profiling system in the forensic field.     

Genotyping of five short tandem repeat loci via triplex and duplex PCR

We have developed a triplex PCR method for D3S1359, HumTH01 and HumTPO tetranucleotide loci and a duplex PCR method for HumFES/FPS and HumvWA31A tetranucleotide loci using high resolution polyacrylamide gel electrophoresis and silver staining. The methods were evaluated for paternity testing and individual identification and allele frequencies at these loci are reported for 189–3387 unrelated individuals in the Finnish population. The D3S1359 locus, especially, was found to be a highly informative locus. Seventeen alleles were found in the D3S1359 locus with a highest observed allele frequency of 0.199, a high exclusion power (PE) in paternity testing (0.78) and a high observed heterozygosity (0.89). The combined PE for these five loci was 0.99.     

Genetic analysis of 15 STR loci in the population of Zhejiang Province (Southeast China)

Fifteen autosomal STR loci were analyzed from a population sample of 598 unrelated individuals residing in Zhejiang Province. We report allele frequencies distribution and statistical parameters for all 15 STR loci, D8S1179, D21S11, D7S820, CSF1PO, D3S1358, THO1, D13S317, D16S539, D2S1338, D19S433, VWA, TPOX, D18S51, D5S818 and FGA. Allele frequencies, the observed heterozygosity (Ho), the polymorphic information content (PIC), and the probability of paternity exclusion (PE) were calculated. All loci were in accordance with Hardy–Weinberg equilibrium (P > 0.05). Our studied population data were compared with the previously published population data of other ethnic groups or areas in China. Our results of present study were valuable for human identification and paternity tests in Zhejiang Province.     

Population data of six STR loci using hexaplex PCR amplification and typing system, "Midi-6" in four regional populations in Japan

The genetic differences of the allele frequency distributions for six STR loci (D20S480, D6S2439, D6S1056, D9S1118, D4S2639, and D17S1290) among regions in Japan were examined using our recently designed hexaplex amplification and typing system, "Midi-6" newly named, to construct a database in the Japanese population. Genotypes at six loci were analyzed in 198, 200, 175, and 196 individuals from the area of Akita, Nagoya, Oita, and Okinawa, respectively, in Japan. The allele frequency distributions were significantly different (p<0.05) at from one to five loci among the four populations when compared pairwise. Significant differences were also observed at two or three loci between Oita- or Okinawa-Japanese and the "pooled" population (n=769), respectively. However, since F(ST) (theta) values were extremely low (<0.05), ranging from 0.0020 to 0.0118 for six loci, genetic differentiation within the pooled Japanese population was negligible. Therefore, it suggested that the data of the allele frequencies at six loci in the pooled population would be employed as the base of calculation for statistical probabilities.     

汉族人群五个STR基因座的多态性调查

应用PCR及PAG电泳技术研究了PLA2A、vWA、CYP19、TH和LPL五个基因座的多态性，调查武汉地区汉族无关个体，获得汉族人群的频率分布。五个基因座基因型频率分布与Hardy-Weinberg平衡吻合良好、分别计算基因座的杂合度（H）、个人识别能力（Dp）、非父排除率（PE）和多态性信息总量（PIC）。为法医学应用提供了基础数据。     

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.     

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.     

Population genetic data of 15 tetrameric short tandem repeats (STRs) in Berbers from Morocco

The allele frequency distribution of 15 short tandem repeats (STR) loci contained in the AmpFlSTR Identifiler PCR Amplification Kit (Applied Biosystems), was determined in two Berber populations from Asni and Bouhria, in Central and Eastern Morocco, respectively. A total of 209 individuals were typed. No deviations from the Hardy-Weinberg equilibrium were observed for Asni at the 15 STRs loci whereas for the Bouhria samples, two loci (D5S818 and TH01) showed significant departures from Hardy-Weinberg expectations (after Bonferroni's correction). All loci are highly polymorphic and population differentiation tests showed that the Moroccan samples from Asni and Bouhria have significant differences in 4 out of 15 loci (D21S11, D7S820, D16S539 and TPOX). The aim of the study was to obtain accurate allele frequencies relevant for forensic applications. Comparative analyses between our population data and other population samples gathered from the literature are also presented.     

北京汉族人群三个Y染色体STR基因座的遗传多态性研究

目的　获得DYS4 37,A7 1,H4三个Y染色体STR基因座及其单倍型在北京汉族人群中的遗传多态性分布 ,并探讨其法医学应用价值。方法　应用自行建立的Y STR 15 plex复合扩增体系 ,对用酚 /氯仿法提取的 132份北京地区汉族无关男性个体血样DNA样品进行复合扩增 ,用ABI310型遗传分析仪对扩增产物进行检测 ,统计分析 3个Y STR基因座的群体遗传学参数。结果　DYS4 37,A7 1,H4三个Y STR基因座在该群体中分别检出 4 ,5 ,4个等位基因 ,GD值分别为 0 4 977,0 6 731,0 5 42 0 ;观察到 32种单倍型 ,其中 17种单倍型出现 1次 ,最多 1种单倍型出现 2 0次 ,单倍型累积GD值为 0 9118。结论　 3个Y STR基因座具有较强的个体识别能力 ,在法医学个体识别和亲权鉴定中具有很高的应用价值     

Zimbabwe black population data on the six short tandem repeat loci – CSF1PO, TPOX, THO1, D3S1358, VWA and FGA

Allele frequencies for six tetrameric short tandem repeat (STR) loci CSF1PO, TPOX, THO1, D3S1358, VWA, and FGA were determined in a Black African sample population from Zimbabwe. All loci are highly polymorphic and meet Hardy-Weinberg expectations. An inter-class correlation test analysis detected only one departure from independence out of 15 pair-wise comparisons of the six loci (i.e., CSF1PO/VWA loci, P=0.026). The allele frequency data at four of the six STR loci in the Black African sample population are similar to African American data.     

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.     

Genetic variation of STR loci D3S1358, TH01, D21S11, D18S51, Penta E, D5S818, D13S317, D7S820, D16S539, CSF1PO, Penta D, vWA, D8S1179, TPOX and FGA by GenePrint PowerPlex 16 in a Polish population

Allele frequencies for the fifteen STRs included in the GenePrint PowerPlex kit were determined in 870 unrelated individuals from Polish population. All loci met Hardy-Weinberg expectations. Exact tests disequilibrium analysis revealed no departures from independence out of 105 pair-wise comparisons. The combined MP and PE for all 15 loci are 6.00x10(-17) and 0.999999, respectively.     

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.     

Population data of Galicia (NW Spain) on the new Y-STRs DYS437, DYS438, DYS439, GATA A10, GATA A7.1, GATA A7.2, GATA C4 and GATA H4

Haplotype, allele frequencies and population data of eight Y-chromosome STR loci, DYS437, DYS438, DYS439, GATA A10, GATA A7.1, GATA A7.2, GATA C4 and GATA H4, were determined from a sample of 212 unrelated male individuals from Galicia (NW of Spain).     

Allele frequency distribution of the STR loci HUMTPOX, HUMTH01 and HUMVWA in Asturias (north 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 HUMTH01, HUMTPOX and HUMVWA in a population sample from Northern Spain. No deviation from the Hardy-Weinberg equilibrium was detected in any of the three 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 medicolegal interest and comparative studies were carried out with other populations studied to date for these five loci. The Asturian sample does not differ substantially from other Caucasian and Spanish populations.     

标准三联体非父排除率计算公式的推导和验证

目的对标准三联体亲子鉴定的非父排除率(PE)进行公式推导和实验验证。方法基于PE定义自行推导公式:PE=sum(P_i~2(1-P_i)~2)from i=1 to n+sum(P_iP_j(1-P_i)~3)from ij to n+sum(P_iP_j(1-P_j)~3)from ij to n+sum(P_iP_j(P_i+P_j)(1-P_i-P_j)~2)from ij to n。将该公式与前人报道的5个公式(1)~(5)进行对比,计算AGCU EX20系统19个常染色体STR基因座的PE值。根据1 000例单亲样本和1 000个无关个体样本设计真实实验,计算PE真实实验值。以随机模拟法产生1 000万对模拟亲母子和1 000万个随机个体,设计模拟实验计算PE模拟实验值。在19个基因座,统计各基因座的等位基因频率之和(S),将PE的公式值、真实实验值和模拟实验值进行对比。结果当S=1时,公式(1)、(2)、(5)、(6)计算结果完全一致,且符合真实和模拟双重实验验证。当S≠1时,公式(1)、(2)、(5)、(6)计算结果有较小误差。公式(3)、(4)的计算结果有较大误差。结论本研究推导的公式(6)与经典公式(1)、(2)、(5)均可用于标准三联体亲子鉴定。S值对PE公式计算有一定影响。