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.     

豫鄂汉族人群9个STR基因座频率调查

调查了河南、湖北两省D3S1358、vWA、FGA、D8S1179、D21S11、D18S5l、D5S818、D13S317、D7S820等9个STR基因座在汉族人群中的频率分布,对696份汉族无关个体的血样检测结果进行了统计分析,9个STR基因座分别观察到8个等位基因和20、27、70、36、49、63、28、28、26种基因型;统计学计算结果显示两群体9个STR基因座基因频率无显著性差异,9个STR基因座组成的复合扩增系统应用于法医学个体识别及亲权鉴定有很高的实用价值.     

Population genetics of nine STR loci from Baoan population in NW China

Allele frequencies for the nine short tandem repeat (STR) loci (D3S1358, FGA, TH01, D7S820, VWA, CSF1PO, D5S818, D13S317, TPOX) were determined in a sample of 120 unrelated individuals of the Baoan ethnic group living in northwest China. The values of observed heterozygosity (H), discrimination power (DP), a priori chance of exclusion (CE) and polymorphism information content (PIC) were calculated. All loci were in accordance with Hardy-Weinberg equilibrium (P=0.05). The obtained frequency distributions were compared with other previously reported population data.     

Genetic analysis of 15 STR loci on Chinese Tibetan in Qinghai Province

We report allele frequencies and statistical parameters of 15 short tandem repeats (STR) loci (D8S1179, D21S11, D7S820, CSF1PO, D3S1358, TH01, D13S317, D16S539, D2S1338, D19S433, vWA, TPOX, D18S51, D5S818 and FGA) determined in 850 unrelated individuals of Chinese Tibetan, an ethnic group residing in Qinghai Province, China. We observed 155 alleles with allele frequencies ranging from 0.0006 to 0.5682. The distribution of these observed genotypes were not significantly different from the expected distribution according to Hardy-Weinberg equilibrium. The forensic parameters from the data showed high values. In conclusion, the 15 STR loci are useful for forensic analysis, paternity tests for Tibetans in the region, and population genetic studies.     

Population genetics of 15 AmpflSTR Identifiler loci in Macedonians and Macedonian Romani (Gypsy)

Allele frequencies of 15 AmpFlSTR Identifiler STR loci (D8S1179, D21S11, D7S820, CSF1PO, D3S1358, TH01, D13S317, D16S539, D2S1338, D19S433, vWA, TPOX, D18S51, D5S818 and FGA) were analysed in a sample of 100 unrelated autochthonous Macedonian and 102 Macedonian Romani individuals, representing different ethnic groups residing within the same country of Former Yugoslav Republic of Macedonia. The interpopulation comparisons between Macedonians and Macedonian Romani with four south eastern European populations, Kosovo Albanians, Serbians from Vojvodina Province, western Romanians and northern Greeks were performed as well as comparison between Macedonian Romani and Assam population from Asia (India). Reported data point that Macedonian Romani, as an example of an endogamous population of Asian (Indian) origin, show significant allelic differences when compared to neighbouring south eastern European populations.     

Allele frequencies for six miniSTR loci of two ethnic populations in China

Allele frequencies and forensic parameters for the six miniSTR loci D1S1677, D2S441, D4S2364, D10S1248, D14S1434, and D22S1045 were investigated in two ethnic China populations. Allele frequencies for each locus are reported along with nomenclature based on sequence analysis. The polymerase chain reaction (PCR) products contained within the six loci were less than 125 bp in size. All loci showed a moderate degree of polymorphism with observed heterozygosity >0.7 except for D4S2364 and did not show departures from Hardy-Weinberg equilibrium for all two populations. The accumulated powers of discrimination for the six loci were 0.999994, and 0.999996 for Han ethnic, and Korean ethnic minority group, respectively.     

An STR database on the Volga-Ural population

This work develops a reference STR database on the Volga-Ural population, Russia, comprised of 640 individuals that were sampled from eight ethnic groups (Finno-Ugric Mari, Mordva-Moksha, Mordva-Erzja, Komi-Permjak, and Udmurt, and Turkic-speaking Bashkir, Tatar-Mishary, and Chuvash) and typed with 10 autosomal STR markers: TH01, CSF1P0, FGA, vWA, D3S1358, TPOX, D16S539, D8S1179, D13S317, FES. The groups differentiate in allele frequencies, and therefore we computed θ-values between allele frequencies in each ethnic groups and those in the database as a measure of their differentiation. Nevertheless, the Volga-Ural ethnic groups form a relatively compact cluster that greatly deviate from the Romanic Moldovans and the Turkic Yakuts, taken for comparison, and are closer to the Slavic Russians, Belarusians, and Ukrainians, although significantly differ from those as well.     

Genetic polymorphisms of 20 STR loci in Chinese Han population in Tianjin,North China

The PowerPlex^® 21 System PCR Amplification Kit was a new PCR Amplification Kit developed for forensic laboratories, but there was a lack of data about this kit in Chinese people in Tianjin, North China. This kit contained 20 STR loci, D3S1358, D1S1656, D6S1043, D13S317, Penta E, D16S539, D18S51, D2S1338, CSF1PO, Penta D, TH01, vWA, D21S11, D7S820, D5S818, TPOX, D8S1179, D12S391, D19S433 and FGA. In order to evaluate this kit and to get basic population data for its use in forensic practice in Chinese Han population, 360 unrelated Chinese Han individuals from Tianjin were typed using the Kit. Allele frequencies of the 20 STR loci and further population forensic genetic parameters were obtained. The observed genotype frequencies and expected genotype frequencies were evaluated by χ² test. No significant deviation from the Hardy–Weinberg equilibrium was observed in the population sample for the 20 STR loci. The population data in the present study can be used for routine forensic practice in Tianjin, North China.     

Distributions of genetic markers in United States populations: II. Isoenzyme systems

All published and unpublished population frequency data that could be located for U.S. populations is tabulated and presented for the isoenzyme systems phosphoglucomutase, esterase D, adenylate kinase, acid phosphatase, glyoxalase I, adenosine deaminase, 6-phosphogluconate dehydrogenase, glutamic-pyruvic transaminase, carbonic anhydrase II, and glucose-6-phosphate dehydrogenase. Results obtained by combining data for comparable racial/ethnic groups are also presented. The results obtained with combined data may give better information on frequencies for the U.S. population at large than is obtainable from studies conducted in restricted geographic areas.     

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。     

22号染色体4个STR基因座的遗传多态性及连锁关系

目的 研究22号染色体上4个STR在中国成都汉族群体的分布,开发新的STR应用于法医学应用。方法 103份汉族无血缘关系的个体血样,及10个三代家系采自成都。用PCR技术分别对4个STR基因座进行扩增,所有基因座均采用非变性聚丙烯酰胺凝胶不连续缓冲系统水平电泳进行分型,银染。应用Linkage软件包的CILINK软件对4个基因座进行连锁分析。结果 通过4个STR的群体遗传学分析,D22S686、D22S533、D22S685和D22S445的个人识别率分别为0.875、0.913、0.923和0.84,它们的非父排除率分别为0.522、0.538、0.624和0.490。在家系调查中,发现D22S685存在一例突变。结论 这4个STR具有很好的多态性,可作为法医学个人识别和亲权鉴定新的候选遗传标记。     

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。     

Analysis of genotype frequencies and interlocus association for the PM, DQA1, and D1S80 loci in four populations

Allele frequencies of the LDLR, HBGG, GYPA, D7S8, GC, DQA1, and D1S80 loci are presented and genotypes are analyzed for each of four ethnic groups: African Americans (n = 200), US Caucasians (n = 200), US Hispanics (n = 200), and Japanese (n = 89). Hardy-Weinberg genotypic proportions were observed in all but two of the 28 population-locus tests undertaken. Those two instances are attributable to type I statistical error. Gametic equilibrium among loci is an assumption invoked for application of the product rule to utilize the discriminatory power from two or more loci simultaneously. Two statistical methods, a genotype matching statistic and log-linear modeling, were used to evaluate gametic disequilibrium. The match statistic, comparing observed to expected likelihood of genotypic identity for seven loci among pairs of individuals within the database, revealed only one statistically significant deviation among 20 tests. As expected, the probability of match was generally lowest in the test on all ethnic groups combined, indicating that allele frequencies differ among ethnic groups for some of the loci. This was confirmed with the statistic theta to measure ethnic stratification, in which about 0.10 of the genetic variation is apportioned among the four ethnic groups for four of the structural loci (LDLR, HBGG, GC, and DQA1), while for GYPA, D7S8, and D1S80, variation is more uniformly distributed among ethnic groups. Log-linear modeling was also applied to the five PM loci. The most parsimonious log-linear model included only three higher order terms: the two-way interactions of three of the PM loci with ethnic group. These three instances (LDLR, HBGG, and GC) indicated differences in allele frequencies between ethnic groups. No two or higher way interaction (disequilibrium) was observed among loci. In summary, the assumptions of Hardy-Weinberg and gametic equilibrium that facilitate the use of the five PM loci, DQA1 and D1S80 in forensic applications are consistent with the allele and genotype frequencies observed in these populations.     

青岛地区汉族人群13个STR基因座的频率分布及法医学应用

目的　调查青岛地区汉族人群无关个体的 13个STR基因座 (D3S135 8、VWA、FGA、D8S1179、D2 1S11、D18S5 1、D5S818、D13S317、D7S82 0、D16S5 39、TH0 1、TPOX、CSFIPO)的基因频率分布 ,研究其遗传多态性及其在法医学个体识别及亲子鉴定中的应用价值。　方法　用美国ABI - 310型遗传分析仪对ProfilerPlus和Cofiler两个系统的 13个STR基因座的复合扩增产物进行毛细管电泳及四色荧光自动分析检测 ,基因分型软件为GeneScanv3.1和Genotyperv2 .5 .2。　 结果　获得 13个STR基因座在青岛地区汉族人群的基因频率分布数据 ,13个STR基因座的PIC >0 .5 ,DP >0 .71,CCE =0 .999999,TDP值接近 1,TPm =1.2× 10 -14 ,家系调查符合孟德尔遗传规律。　结论　ProfilerPlus和Cofiler两个系统的 13个STR基因座在法医学个体识别及亲子鉴定中具有较高的应用价值。     

Population genetic analysis of 15 autosomal STRs loci in the central region of Argentina

Allele frequencies, together with some parameters of forensic interest, for 15 STRs included in the Powerplex-16 System (CSF1PO, D3S1358, D5S818, D7S820, D8S1179, D13S317, D16S539, D18S51, D21S11, FGA, Penta D, Penta E, TH01, TPOX and VWA) were estimated from a sample set of 1368 unrelated individuals from three of the most densely populated provinces of Argentina. No deviations from Hardy-Weinberg equilibrium were observed using the Bonferroni correction for the number of loci analyzed. Comparative analyses between our population data and that of other Argentinean databases previously published are presented and discussed. The most informative loci in our data set is the Penta E Loci with discrimination power larger than 0.98 and typical paternity index larger than 4.3. Our results demonstrate that these loci are robust since different laboratories and sample sets provided highly consistent results. This observation underscores the usefulness of these markers systems for human identification and parentage testing.     

Population data at two short tandem repeat loci D2S1338 and D19S433 in the sample of multinational Bosnia and Herzegovina residents

POPULATION: We have analyzed the distribution of allele frequencies at two short tandem repeats loci (D2S1338 and D19S433) in a multinational sample of Bosnia and Herzegovina (B&H) residents. A total of 110 unrelated male and female individuals (Caucasians) from different regions of B&H were sampled for the analysis. We ensured that the sample reflected approximate proportional participation of the three main ethnic groups in the population of B&H (Bosniacs-Muslim [45%], Serbs [34%], Croats [21%]).     

Distributions of genetic markers in United States populations: I. Blood group and secretor systems

All published and unpublished population frequency data that could be located for U.S. populations are tabulated and presented for the blood group and secretor systems. Results obtained by combining data for comparable racial/ethnic groups are also presented. The results obtained with combined data may give better information on frequencies for the U.S. population at large than is obtainable from studies conducted in restricted geographic areas.     

Testing for genetic structure in different urban Argentinian populations

Fifteen autosomal short tandem repeat (STR) markers (D3S1358, HUMTH01, D21S11, D18S51, PENTA E, D5S818, D13S317, D7S820, D16S539, CSF1PO, PENTA D, HUMvWA, D8S1179, HUMTPOX, FGA) were analyzed in 1734 individuals living in urban areas of cities from six different Argentinian provinces (Buenos Aires, Neuquén, Tucumán, La Pampa, San Luis, Santa Cruz) in order to determine if a common urban database could be used in Argentina for forensic purposes. Frequencies estimates, Hardy-Weinberg equilibrium (HWE), and other parameters of forensic interest were computed. Comparisons between the six populations, and with published data from one Native American population from Argentina and other urban populations from Argentina and Europe were also performed. Our results reveal evidences for population structure, both when testing for genetic differentiation and when comparing frequencies distributions between different pairs of populations. Therefore, caution should be taken when using a common pooled database with general forensic purposes in Argentina.     

The use of capillary electrophoresis for the study of D13S317 and D7S820 microsatellites in Caucasian population of the Ural region of Russia

A method for the simultaneous amplification and typing of microsatellites D13S17 and D7S820 by using monocomplex sets GenePrint Fluorescent STR Systems ("Promega Corp.", USA) was worked out. The offered method is accurate, reproductive, sensitive and needs a short time for analysis. Allele frequencies D13S17 and D7S820 for the above mentioned Caucasians were determined on the population sample of 120 persons who were not relatives and who resided in the Ural region of Russia. The genotype frequencies of both locuses in this population sample did not differ statistically from Hardy-Weinberg equilibrium. The aggregate discrimination factor for both locuses amounted to 0.995. The null hypothesis of independence among locuses D13S17 and D7S820 was checked by using an accurate test. No relation was found between alleles of the 2 tested locuses in the population sample of Ural Caucasians. The testing of the null hypothesis of the population homogeneity of allele frequencies of the examined locuses showed, among 5 Caucasian population samples, a reliable difference only for locus D7S802 in case of a couple of an Ural and Polish population sample. Allele frequencies for other couples were homogeneous.     

Allele frequencies for 15 autosomal STR loci and admixture estimates in Puerto Rican Americans

Allelic frequencies of 15 short tandem repeats (STR) markers (CSF1PO, FGA, THO1, TPOX, VWA, D3S11358, D5S818, D7S820, D8S1179, D13S317, D16S539, D18S51, D21S11, D19S433 and D2S1338) were determined using the AmpFl STR Identifiler PCR Amplification Kit in Puerto Rican American individuals (N=205) from Massachusetts. The FGA, D18S51 and D2S1338 loci had a high power of discrimination (PD) with values of 0.967, 0.965 and 0.961, respectively. Significant deviations from the Hardy-Weinberg (HW) equilibrium were not detected. An important genetic contribution of Caucasian European (76.4%) was detected in Puerto Rican Americans. However, comparative analysis between Puerto Rican American and other neighboring populations from United States mainly with African and Caucasian Americans, revealed significant differences in the distribution of STR markers. Our results are important for future comparative genetic studies of different American ethnic groups, in particular a cultural group called Hispanic-Americans and should be helpful for forensic and paternity testing.