Population data for 8 X-chromosome STR loci in a population sample from Northern Italy and from the Sardinia island

To establish a database for DXS8378, HPRTB, DXS7423, DXS7132, DXS10134, DXS10074, DXS10101, DXS10135 loci in an Italian population sample from Brescia (Northern Italy) and from the Sardinia island, 131 unrelated individuals were typed. DNA was amplified in a multiplex reaction with subsequent automatic detection using capillary electrophoresis. The obtained data give a contribution to the definition of Italian population STR allele frequencies for the eight analysed loci.     

X-chromosome STRs analysis of Ewenke ethnic population

X-chromosome STR, known as microsatellite, is a kind of the most information genetic markers for specific biological materials. Because the size of X-chromosome STR alleles is small, generally including 100-350 nucleotides, it is relatively easy to be amplified and detected with high sensitivity. We have investigated 10 X-chromosome STR loci in an Ewenke ethnic population who live in Neimengu of northeast China. Allele frequencies of 10 X-chromosome STR loci, including DXS7133, DXS6799, DXS8378, DXS7423, DXS6804, HPRTB, DXS7424, DXS7132, DXS6789 and DXS101, were obtained from healthy unrelated individuals (45 females and 53 males) of Ewenke ethnic group.     

Genetic Polymorphisms of four X-STR Loci: DXS6797, DXS6800, HPRTB and GATA172D05 in a Peruvian population sample

The X linked short tandem repeats (STR) markers have proven to be very useful tools for paternity testing when the disputed child is female. The purpose of this study was to describe the genetic polymorphism of four X-chromosomal STR loci (DXS6797, DXS6800, HPRTB and GATA172D05) in a Peruvian population sample and evaluate their efficiency in forensic practice and paternity testing.     

Patterns of genetic polymorphism at the 10 X-chromosome STR loci in Mongol population

Genetic diversity at 10 X-chromosome STR loci has been approved and widely used for forensic science field. In this paper, we have studied this genetic diversity in various Mongol ethnic group with geographic backgrounds. Allele frequencies of 10 X-chromosome STR loci, including DXS7133, DXS6799, DXS8378, DXS7423, DXS6804, HPRTB, DXS7424, DXS7132, DXS6789 and DXS101, were obtained from healthy unrelated individuals (53 females and 47 males) of Mongol ethnic group lived in north China. Gene diversity analysis showed that the average heterozygosity was uniformly high (0.687) in the studied population. The coefficient of PIC was 0.99998.     

Validation of the STR DXS7424 and the linkage situation on the X-chromosome

X-linked microsatellite markers have proven to be powerful tools for parentage testing, mainly in deficiency paternity cases when the disputed child is female. However, only a small number of X-linked short tandem repeats (STRs) have been comprehensively described for forensic applications to date.We present sequence and population genetic data of the DXS7424 STR (GDB-G00-577-633) which is a trinucleotide repeat polymorphism representing 12 alleles of 147-180 bp in length. DXS7424 is located at Xq22 and closely linked to DXS101, corresponding to a genetic localisation of 104.9-121 cM from Xp-tel.PCR fragment length measurements and sequencing were carried out using the automatic gene analyser ABI 310 (Applied Biosystems).The population of 764 unrelated Germans checked for this STR exhibited the following features: polymorphism information content (PIC) = 0.780; heterozygosity (Het) = 0.843; mean exclusion chance (MEC = 0.766. Kinship tests revealed a typical X-linked inheritance. In 300 meioses under investigation, mutations were not found. Significant deviations from the Hardy-Weinberg equilibrium (HWE) were not established.Linkage studies confirmed closely linkage to DXS101. Additional we found linkage disequilibrium between DXS7424 and DXS101. This requires to use the established haplotype frequencies in kinship testing.     

西安汉族X染色体上6个STR位点的遗传多态性

目的调查西安汉族人群6个位于X染色体上的短串联重复序列:DXS8378、DXS7132、DXS6789、DXS101、HPRTB和DXS7423的基因及基因型频率分布。方法应用PCR和变性聚丙烯酰胺凝胶电泳及银染技术检测结果。结果在120例女性无关个体中,DXS8378、DXS7132、DXS6789、DXS101、HPRTB和DXS7423分别检出5、6、11、10、8和4个等位基因;分别检出10、17、29、32、22和7种基因型;此6个位点女性的基因型频率分布均符合Hardy-Weinberg平衡。结论此6个X染色体STR位点均有较高的个体识别率,在个体识别和女孩的亲权鉴定中有应用价值,对疾病相关研究有实际意义。     

X-chromosome STR polymorphism of Luoba Ethnic Group living in Tibet (SW China)

Allele frequencies of 10 X-chromosome STR loci, namely DXS7133, DXS6789, DXS6804, DXS6799, DXS8378, DXS101, DXS7424, DXS7132, DXS7423 and HPRTB were determined from healthy unrelated males and female individuals of Luoba Ethnic Group living in Tibet (SW China).     

Genetic analysis of 18 X-linked short tandem repeat markers in Korean population

The population genetic data of 18 X-chromosomal short tandem repeat (STR) markers DXS6807, DXS8378, DXS9895, DXS9902, DXS6810, DXS7132, DXS981, DXS6800, DXS9898, DXS6789, DXS101, DXS6797, GATA172D05, GATA165B12, HPRTB, GATA31E08, DXS8377, and DXS7423 were analyzed in samples of unrelated 220 males and 181 females from Korean population. The exact test for genotype distribution of the markers showed no significant deviation from the Hardy-Weinberg equilibrium. Allele frequencies between male and female samples were not significantly different in all examined markers. All examined males and females showed different hemizygotic haplotype and combined genotypes, respectively. Four cases of mutation were found in GATA172D05, GATA31E08, DXS7132, and HPRTB from the analysis of 95 father-child-mother trios. Details of X chromosomal STRs in Koreans would be useful in paternity tests and forensic purposes as well as whole X-chromosomal mapping studies.     

汉族人群DXS9898基因座的遗传多态性

目的研究汉族群体DXS9898基因座的遗传多态性,为法科学应用提供基础数据。方法应用PCR及PAG电泳技术,对成都地区汉族群体199名女性无关个体及97名男性无关个体进行群体遗传学调查。结果共检出6个等位基因,片段大小为189～214bp,其基因型分布符合Hardy-Weinberg平衡。家系调查证实等位基因的传递遵循孟德尔遗传规律。女性样本杂合度为0.5930;男、女性样本个人识别能力(Dp)分别为0.5667、0.9420;父-母-女三联体鉴定的非父排除率(PE)为0.5862。结论DXS9898基因座在法科学个人识别及女性小孩的亲权鉴定中具有较高的实用价值。     

Development of the X-linked tetrameric microsatellite marker HumDXS6789 for forensic purposes

This paper presents sequence and population genetic data of the X-linked DXS6789 short tandem repeat (STR). The tetranucleotide repeat polymorphism DXS6789, also known as CHLC.GATA31F01, is located at the Xq22.3 region. This locus is unlinked with DXS6807 and slightly linked with ARA, DXS9898 and HPRTB. In kinship testing, DXS6789 is suitable for concomitant use with DXS6807. Population genetic data were obtained by analysing 250 unrelated males and 315 females from East Germany. In this population, the STR exhibited 12 clearly distinguishable alleles ranging from 154 to 198bps in length. DXS6789 is characterised by the following data: polymorphic information content (PIC)=0.70; observed heterozygosity (Het)=0.78; mean exclusion chance (MEC)=0.70. A deviation from the Hardy-Weinberg equilibrium could not be detected. The investigations we performed in 243 mother-child and 161 father-child meioses did not reveal any mutations.     

Analysis of STR loci in Cartagena, a Caribbean city of Colombia

Allele frequencies, together with some parameters of forensic interest were estimated for nine STRs included in the AmpF/STR Profiler kit (CSF1PO, D3S1358, D5S818, D7S820, D13S317, FGA, TH01, TPOX and vWA) in a sample of 215 unrelated individuals from Cartagena (Colombia). For all loci, no significant deviations from Hardy-Weinberg equilibrium were observed. Comparative analysis results between our data and those from other Colombian and African population samples revealed significant differences, except with two Colombian Caribbean Coast sub-regions.     

Analysis of STR loci in Cartagena, a Caribbean city of Colombia

Allele frequencies, together with some parameters of forensic interest were estimated for nine STRs included in the AmpF/STR Profiler kit (CSF1PO, D3S1358, D5S818, D7S820, D13S317, FGA, TH01, TPOX and vWA) in a sample of 215 unrelated individuals from Cartagena (Colombia). For all loci, no significant deviations from Hardy-Weinberg equilibrium were observed. Comparative analysis results between our data and those from other Colombian and African population samples revealed significant differences, except with two Colombian Caribbean Coast sub-regions.     

应用DNA Typer15TM Direct试剂盒对河南地区汉族人群14个基因座遗传多态性的调查

目的调查河南地区汉族人群14个STR基因座的遗传多态性。同时简要介绍本实验室建库流程。方法应用DNA Typer15TM Direct试剂盒检测359名河南地区汉族无关个体14个STR基因座的等位基因频率,并应用统计软件计算群体遗传学参数。结果 14个STR基因座的基因型分布均符合Hardy-Weinberg平衡(P>0.05),14个基因座的杂合度(H)在0.694～0.922之间,匹配概率(Pm)在0.017～0.131之间,个人识别率(PD)在0.869～0.983之间,多态信息含量(PIC)在0.670～0.910之间,非父排除概率(PE)在0.418～0.841之间。结论 14个STR基因座在河南汉族人群中有较高的多态性,所得的群体遗传学数据可为法医学个人识别和亲子鉴定提供结果评估的依据。应用DNA Typer 15TM Direct试剂盒构建DNA数据库简单经济实用。     

Y-STR haplotype data and allele frequency of the DXS10011 locus in a Japanese population sample

The distribution of allele frequency of X-chromosomal STR, DXS10011, from 99 unrelated Japanese, 72 male and 27 female, were determined by PCR amplification and PAGE. At the same time, haplotype frequencies of five Y-chromosomal STR loci, DYS19, DYS389I, DYS389II, DYS390 and DYS393 from male samples were determined.     

Population data for six X-chromosome STR loci in a Rio de Janeiro (Brazil) sample: Usefulness in forensic casework

This study presents data for the X-chromosome STR loci DXS7133, DXS7424, DXS8378, DXS6807, DXS7423 and DXS8377. In order to establish a database, unrelated individuals (males and females) from Rio de Janeiro were typed for the above loci. No significant differences were observed between allele frequencies in male and female samples (non-differentiation exact P values ≥ 0.156). Hardy-Weinberg equilibrium was tested in the female sample and no significant deviations were found. All six markers have shown to be highly polymorphic in our sample with gene diversities varying between 0.6797 for DXS7133, and 0.9260 for DXS8377. Pairwise linkage disequilibrium analysis did not allow discharging a possible association between DXS7133 and DXS7424 alleles in Rio de Janeiro population. Parameters of forensic interest, like PD_M, PD_F, Het_obs, Het_exp, were calculated for each locus. The high discrimination power estimated in both males and females, as well as mean exclusion chance in father/daughter duos and in father/mother/daughter trios, demonstrates the usefulness of these six markers in forensic investigation.     

Hungarian population data of eight X-linked markers in four linkage groups

The X chromosomal STR markers DXS10135 and DXS8378 in linkage group 1, DXS7132 and DXS10074 in linkage group 2, HPRTB and DXS10101 in linkage group 3, and DXS10134 and DXS7423 in linkage group 4 were studied in the Hungarian population. After genotyping unrelated men (219) and women (165), forensic efficiency parameters were calculated. Deviations from Hardy-Weinberg equilibrium could not be detected. There were several microvariant and rare alleles were sequenced: four in locus DXS10135 (alleles 17.1, 18.1, 20.1 and 26.1), one in locus DXS10074 (alleles 11), three in locus DXS10101 (alleles 26, 34.2 and 35) and five in locus DXS10134 (alleles 35.3, 37.2, 38.2, 39.2, 41).     

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。     

Northeast Italy population data using multiplex PCR (HUMCD4, HUMTH01, HUMTPOX, and HUMCSF1P0) loci

Allele and genotype frequencies for four short tandem repeat (STR) loci (HUMCD4, HUMTH01, HUMTPOX, and HUMCSF1P0) were determined in 100 unrelated individuals from Veneto (Northeast Italy). After a multiplex polymerase chain reaction (PCR)-amplification, semi-automatic DNA profiling was performed using an A.L.F.express DNA Sequencer. Conditions were optimized for the PCR co-amplification of these four STR loci and the quadruplex PCR was performed on various forensic DNA samples such as whole blood, blood-stains, teeth, and saliva from Caucasians living in the Northeast Italy. The distribution of the genotype frequencies showed no significant deviation from Hardy-Weinberg expectations in the sampled population. The combined Power of Discrimination (PD) of the quadruplex was 0.9999.     

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.     

云南怒族X染色体5个STR基因座遗传多态性

目的以云南怒族无关个体为研究对象,调查怒族群体DXS6804、DXS6799、DXS8378、DXS7130、DXS7132基因座的基因频率及基因型频率分布,建立群体遗传数据库。方法用聚合酶链反应(PCR)、变性聚丙烯酰胺凝胶电泳结合银染的方法,检测100名云南怒族个体X染色体上5个STR基因座的重复序列长度变化。结果云南怒族群体5个STR基因座具有遗传多态性,χ2检验表明多态性分布符合Hardy-Weinberg平衡定律。结论云南怒族群体DXS6804、DXS6799、DXS8378、DXS7130和DXS7132基因座,可用于法医学个体识别、亲子鉴定等研究。