Studies of the allelic diversity in micro-satellite locus D16S539, F13B, FESFPS, TH01, and TROX in European population of Russia Ural region using capillary electrophoresis

Allelic frequencies of chromosome micro-satellite locuses D16S539, F13B, FESFPS, TH01 and TPOX were determined, within the case study, in a sampling of Europeoidal individuals residing in Russia's Ural Region. The allelic variants were analyzed by capillary electrophoresis after the enzyme amplification in polymerase chain reaction with fluorescent primers. The genotypic frequencies of the studied locuses were shown not to divert with statistical reliability from Hardy-Weinberg equilibrium. The estimated aggregate discriminative potential for a panel of 5 studied locuses made 0.99995. No nonequilibrium was found by linkage between alleles of all lucuses examined within the present case study or between their alleles and the alleles of previously investigated locuses D7S820 and D13S317. The implemented testing of the population homogeneity of allelic frequencies of investigated locuses for 3 samplings of Europeoids showed a deviation for locus FESFPS versus the Ural and Polish samplings and for locus F13B in the Ural and North America samplings. The distribution of allelic frequencies of other locuses was homogenous in the compared samplings.     

Distribution of HLA DQA1, LDLR,GYPA, HBGG,D7S8, and GC locus alleles in the population of Russia

The distribution of chromosome locus alleles HLA DQA1, LDLR, GYPA, HBGG, D7S8, and GC of PolyMarker molecular genetic individualizing system was studied for the first time in a representative "mean statistical" sampling of Russian population. Typing of these locuses was carried out in 391 donors (no relatives) from 63 regions of the Russian Federation. The incidence of genotypes of all 6 locuses corresponded to the expected values, estimated on the basis of Hardy-Weinberg equilibrium hypothesis. This allows us to use the frequency characteristics of HLA DQA1 locus and the PolyMarker locuses determined in our study as the reference parameters for standard probability estimations in DNA identification. The frequencies of PolyMarker locuses alleles in the Russian sampling (in comparison with other ethnic groups) coincided best of all for allele frequencies in Europeoids living in the USA. For expert evaluation of the efficiency of using these locuses as molecular genetic markers with identification purposes, the discrimination potential was estimated separately for each locus and combinations thereof. HLA DQA1 locus was the most informative of the studied 6 locuses. The main population characteristics of this locus (probability of accidental coincidence, potential of discrimination--PD, polymorphism coefficient--PIC, exclusion potential--Pe, and mean value of parentage index--PI) were estimated for the population of Russia. The frequency distribution of alleles of the studied panel of locuses in the mean statistical Russian population obtained in our study can be used in molecular genetic personality identification and in anthropological studies.     

A definition of the nomenclature of allele variants and a description of allele polymorphism within a molecular-genetic individualization system based on the pentanucleotide tandem replication of HUMCD4

While analyzing the available published data, we found significant differences in definition of alleles of the HUMCD4 polymorphic chromosome locus. It is an obstacle for comparing the expertise results obtained while using the locus as molecular individualization system in different laboratories and, as a consequence, it hinders the use of the said marker in building up a reference database. The structure of the HUMCD4 locus was analytically investigated and the distribution of the locus alleles was systemized in a sample of 407 persons (citizens of Russia who are not blood relatives) within the present case study for the purpose of a detailed definition of its allele's characteristics. We worked out recommendations related with the nomenclature standardization of alleles of the HIMCD4 locus and specified the main population features of the locus polymorphism on the bases of the studied sample of Russia's citizens. The results can be used as reference parameters in interpreting the findings of the molecular-genetic identification expertise and examinations and in building up databases.     

Analysis of the D1S80 (pMCT118) VNTR locus polymorphism in a native Kuwaiti population by the polymerase chain reaction

We have determined the allele and genotype frequencies at the hypervariable locus D1S80 in a native Kuwaiti population using the polymerase chain reaction technique and subsequent high resolution gel electrophoresis. In a sample of 200 individuals, 21 alleles and 57 genotypes were detected. The alleles with 18 and 24 repeat units were most common with frequencies of 0.188 and 0.408 respectively. The distribution of the observed genotypes was in agreement with the Hardy-Weinberg equilibrium prediction. The observed heterozygosity for the population sample was 0.80 with the allelic diversity of 0.781 ± 0.029 and the power of discrimination was 0.94. The data obtained in this study are potentially useful for individual identification in forensic casework.     

成都地区汉族人群D2S441位点的遗传多态性研究

为研究 STR位点 D2S441的遗传多态性,为法医学应用提供基础数据,应用 PCR及 PAG电泳技术对 260名成都地区汉族无关个体进行了调查,共检出 9个等位基因及 26种基因型,首次获得汉族群体频率分布 ,其等位基因片段大小范围为 131～ 155bp。该位点基因型频率分布符合 Hardy－ Weinberg平衡。家系调查证实了等位基因的传递遵循孟德尔遗传规律。其个人识别能力（ Dp）、杂合度（ H）、多态性信息含量（ PIC）和非父排除率（ PE）分别为 0.9084、 0.7885、 0.7390和 0.5778,表明该位点在法医学个人识别及亲子鉴定中具有较高的实用价值。     

FAM羧基荧光素修饰引物检测D1S80基因座遗传多态性

目的建立用FAM羧基荧光素修饰引物检测DIS80基因座的方法。方法采用5-FAM修饰引物,通过PCR扩增,DNA全自动遗传分析仪进行片段长度分析,检测129名黑龙江汉族无关个体DIS80基因座遗传多态性。结果在所调查的129名黑龙江汉族无关个体样本中,DIS80基因座有21个等位基因,56个基因型,基因频率在0.0039-0.1667之间。杂合度(H)为0.9097,个人识别机率(PD)为0.9691,非父排除概率(PE)为0.8113,多态性信息总量(PIC)为0.8988。群体内基因型频率分布符合Hardy-Weinberg平衡。结论FAM羧基荧光素修饰引物检测DIS80基因座的方法,简便、灵敏、稳定性好,DIS80基因座用于个体识别及亲权鉴定具有很高的实用价值。     

Population study of D1S80 locus in Caucasians living in the Ural region of Russia by capillary electrophoresis

A series of screening tests showed that separation of polymerase chain reaction products and identification of D1S80 by capillary electrophoresis with the use of hydroxyethyl cellulose as the substituting screening template and double internal DNA reference is an accurate, rapid, and reliable method, fit for routine use. D1S80-allele frequencies for Caucasian population were determined in a population of 340 unrelated individuals living in the Ural region of Russia. The D1S80 genotypical frequencies in this population sample do not statistically deviate from the Hardy-Weinberg expectations. The discrimination power for this locus is 0.935. Significant deviations from the zero hypothesis of population homogeneity were detected by comparison of 4 Caucasian population samples. Differences in the frequencies of alleles 25, 30, and 31 seem to be the main cause of heterogeneity in paired comparison.     

中国成都地区汉族群体5个STR基因座的遗传多态性

采用PCR扩增,聚丙烯酰胺凝胶电泳分析技术,调查中国成都汉族群体DIS1656、D851179、D9S302、D185535及D195253等5个STR基因座的等位基因频率分布。D1S1656检出11个等位基因,35种基因型;DSS1179检出9个等位基因,32种基因型;D95302检出12个等位基因,50种基因型;D185535检出7个等位基因,20种基因型;D195253检出8个等位基因,28种基因型。5个STR基因座基因型频率分布符合Hardy-weinberg平衡（P＞0．05）。个人识别机率（DP）为0．92～0．98。分析了二代3口之家的遗传模式,证明5个STR基因座均符合孟德尔遗传规律。5个STR基因座PCR扩增采用同一条件,方法简单、快速、灵敏、重复性好,可用于法科学亲子鉴定和个人识别。     

Allele and genotype frequencies for D1S80 locus in a Brazilian population sample

Gene and genotype frequencies in relation to the D1S80 locus were determined in a sample of 197 unrelated individuals (144 Caucasians and 53 Mulattoes), living in the city of S?o Paulo, Brazil. The Mulatto group was composed by mixed individuals who presented at least one negroid physical characteristic or declared themselves to be of mixed (Black-White) ancestry. Nineteen different alleles were detected in the Caucasian sample and 15 among Mulattoes. Alleles 18 and 24 were found to be the most common ones in the Caucasian population with frequencies of 0.173 and 0.357 respectively; the sample heterozygote frequency was estimated in 0.824. Alleles 18, 24, and 28 were found to be the most common alleles among Mulattoes with respective frequencies of 0.150, 0.349, and 0.113; the sample heterozygote frequency was 0.759. Fifty-five different genotypes were detected among Brazilian Caucasians whereas the respective figure among Mulattoes was 31. No significant deviations from Hardy-Weinberg equilibrium were found in both population samples.     

Distribution of D1S80 alleles in the Bahrainian population

This study demonstrates that the locus D1S80 is highly polymorphic in the Bahrainian population. There were 24 different D1S80 alleles and 51 distinct genotypes observed in 198 Bahrainians. There was one allele observed that was smaller than the 14 repeat allele. This data set meets the Hardy-Weinberg expectations (HWE) and could be a useful marker for parentage testing and forensic applications.     

Allele frequencies of four VNTR loci in the Chinese population in Hong Kong

DNA specimens isolated from the blood samples of 209 unrelated Chinese persons were characterised with four probes, i.e. MSI (D1S7), YNH24 (D2S44), pH30 (D4S139) and TBQ7 (D10S28), in conjunction with the restriction enzyme HaeIII to establish a population DNA-profile database. Each locus showed a fairly wide distribution of alleles and high heterozygosity. The sizes of alleles ranged between 0.73 and 19.95 kb for the D1S7 locus, between 0.78 and 4.72 kb for the D2S44 locus, between 2.53 and 15.74 kb for the D4S139 locus, and between 0.66 and 6.53 kb for the D10S28 locus. The heterozygosities for the D1S7, D2S44, D4S139 and D10S28 loci were 97.6%, 92.3%, 86.6% and 96.2%, respectively. Allele frequencies were determined using the ‘fixed-bin’ approach. The bins were based on the 30-band pattern of the molecular size marker used in this laboratory (GIBCO BRL 4401SA). The most commonly observed bin frequencies for the four loci ranged from 9% to 19%. When a default minimum bin frequency of 10% and the product rule based upon the principles of Hardy-Weinberg equilibrium were used to calculate the most common genotype frequencies, the values ranged from 2.1% to 6.4%. The minimum composite discriminating potential of the four loci, expressed as the product of the frequency of the most common genotype for each locus, was about 1 in 770 000.     

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。     

D8S384基因座的遗传多态性及其在法医物证检验中的应用

揭示人类自然群体中D8S384基因座的基因型频率,评估D8S384基因座在法医物证中的应用价值,以及建立D8S384基因座的分型方法。用不同基因型PCR产物混合的方法,制备了D8S384等位基因分型标准物,并按照国际法医血液遗传学会DNA委员会推荐的原则命名了等位基因。采用PCR扩增、电泳分析、银染显色的方法,调查了世界3大人种11个群体1103名个体的D8S384基因型。D8S384基因座共有8个等位基因,群体内基因型分布符合Hardy－Weinberg平衡,群体间基因型构成有显著性差异。利用群体数据估计了D8S384基因座的法医学理论应用价值,计算得出D8S384基因座的期望杂合度为0．704±0．014,个人识别机率为0．864。D8S384基因座是一个较好的法医学STR遗传标记。     

Allelic frequencies for the HLA-DQA1, D1S80, HUMTHO1, HUMTPOX, HUMCSF1PO and HUMVWA loci in Cantabria (middle north Spain)

Allele frequencies for six DNA polymorphisms have been studied in a population sample from Cantabria (middle north Spain) using the polymerase chain reaction. The HLA-DQA1 locus was analyzed by the reverse dot-blot technique and the other five by polyacrylamide gel electrophoresis followed by silver staining. Six alleles were found for HLA-DQA1. 15 alleles for D1S80, 6 alleles for HUMTHO1 and HUMCSF1PO, 7 for HUMTPOX and 8 alleles for HUMVWA. The 21 repeat allele in HUMVWA had not previously been reported in a Spanish population. The genotype distributions met Hardy-Weinberg expectations for all the systems and some statistical parameters of forensic interest were calculated. Comparisons with other populations revealed significant differences for HLA-DQA1, HUMVWA and HUMTHO1, with interracial differences being more pronounced than between Spanish populations. The HUMVWA system showed the highest forensic efficiency of the six polymorphisms studied.     

Genetic diversity at 15 fluorescent-labeled short tandem repeat loci in the Patel and other communities of Gujarat, India

Thirteen tetranucleotide and 2 pentanucleotide repeat units were analyzed in 120 unrelated individuals of Patel and other communities of Gujarat, India. Allele frequency data obtained from the analysis of 15 short tandem repeat markers of the population were found to be satisfying Hardy-Weinberg equilibrium, with marginal deviations. Departures from Hardy-Weinberg equilibrium were observed in Patel communities at locus vWA and for that of the other communities at locus D7S820 and at locus TPOX. The power of discrimination values on an average fall within the range of 0.718 and 0.870, with deviations at locus D3S1358 showing a value of 0.400 for Patels. The value ranged between 0.709 and 0.869, with slight variations among the studied alleles in the other group. Thus, the 15 markers selected for this study were found to be highly suitable in human identification and for providing information on genetic polymorphism of the population of Gujarat.     

Frequencies of D8S384 alleles and genotypes in European, African-American, Chinese, and Japanese populations

D8S384 is a tetranucleotide tandem repeat locus. In order to evaluate the forensic validation of D8S384, the genotype distributions and allele frequencies in ten populations from three main ethnic groups were investigated, including Germans, Slovakians, African Americans, Japanese, and Chinese (Jilin, Guangzhou, Nanning, Hailaer, Dali, and Chengdu). A total of 1011 unrelated individuals, 41 pedigrees, 30 disputed paternity trios and three personal identification cases were analyzed for D8S384 by Amp-FLP technique. Many kinds of tissues, body fluids, secreta and stains have been tested. The alleles were determined by comparison with a human allele ladder. The results showed that D8S384 typing was both precise and reliable. There were eight alleles in these populations. The genotype distributions conformed to Hardy-Weinberg equilibrium predictions. No mutation events were observed. With a maximum likelihood method, the mutation rate was indirectly estimated as 2.14 x 10(-5). The heterozygosity was 0.704 +/- 0.014 at D8S384 locus. All these results suggest that D8S384 locus is a useful marker for forensic identification and paternity analysis.     

中国成都汉族及泰国群体D7S2846基因座的遗传多态性

研究STR基因座D7S2 846的遗传多态性 ,为法科学应用提供基础数据。应用PCR及PAG电泳技术 ,对376名中国成都汉族无关个体及 131名泰国无关个体进行了调查。两群体分别检出 8个和 7个等位基因 ,首次获得该基因座基因在两群体中的频率分布。两群体基因型频率分布均符合Hardy Weinberg平衡。家系调查证实了等位基因的传递遵循孟德尔遗传规律。该基因座在两群体中的个人识别能力 (Dp)分别为 0 85 70、 0 86 0 2 ,杂合度 (H )分别为0 6 915、 0 6 870 ,多态性信息含量 (PIC)分别为 0 6 445、 0 6 5 5 3 ,非父排除率 (PE )分别为 0 415 2、 0 40 85。D7S2 846基因座在法医学个人识别及亲子鉴定中具有较高的实用价值。     

The structure, frequency, and forensic application of the STR locus D16S543 in the Japanese population

D16S543 is a complex STR locus consisting of five types of repeat units. The frequency distribution and genetic characteristics of this locus in Japanese were investigated using blood samples from 124 unrelated Japanese and 15 families. Alleles were detected using denatured polyacrylamide gels followed by automated analysis on an ABI 373 sequencer using Genescan software 672. Twenty-one alleles were identified, ranging in size from 281 to 489 bp. An allelic ladder containing the 21 alleles was constructed and used as a typing standard. The repeat unit arrays allowed the 21 alleles to be classified into three distinct groups, including alleles 1 to 7 in group I, alleles 8 to 14 in group II, and alleles 15 to 22 in group III. The alleles in group II were characterized by the insertion of one repeat unit of CAGG, one of AAAG, and three of AAGG, while the group III alleles differed from those of groups I and II by the insertion of a total of 32 repeat units ranging in 5 types. Within each group, the alleles differed from each other only in one 5' side tetranucleotide AAGG. The power of discrimination (Pd) and the estimated heterozygosity were calculated to be 0.989 and 0.934, respectively. Typing of this locus was successfully applied in four old forensic materials. The study presented herein demonstrates that D16S543 is a highly polymorphic and applicable locus in Japanese.     

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。     

Allele frequencies for nine STR loci in Ovambo population using AmpFlSTR Profiler Kit

Allele frequencies for the nine short tandem repeat (STR) loci D3S1358, vWA, FGA, TH01, TPOX, CSF1PO, D5S818, D13S317, and D7S820 were investigated in 195 unrelated Ovambo (Bantus) population from Namibia. AmpFlSTR Profiler Kit was employed for amplification. For each locus, 6-19 alleles were observed. Comparison between Ovambo population data and that of other African populations was performed. AmpFlSTR Profiler detection system is a useful tool for individual identification in Ovambo population.