Population data of 8 X-STRs in South Italy (Calabria) using the Mentype Argus X-8 PCR Amplification Kit (Biotype)

X-STRs have been proven to be useful in case of deficiency paternity testing and in effective mother-son kinship and father-daughter testing.In the present study, we investigated the distribution of 8 X-STRs loci DXS8378, HPRTB, DXS7423, DXS7132, DXS10134, DXS10074, DXS10101, DXS10135 in an Italian population sample, using the Mentype^® Argus X-8 PCR Amplification Kit (Biotype).Samples for the study were obtained form 200 unrelated healthy individuals belonging to Calabria (South Italy) population since at least 3 generations.     

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).     

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.     

Population data of eight X-chromosomal STR markers in Ewe individuals from Ghana

The investigation of the X-linked DNA markers are well established in the forensic routine case work. We studied an Ewe population sample from Ghana. The eight X-chromosomal STRs DXS10135, DXS8378, DXS7132, DXS10074, HPRTB, DXS10101, DXS10134 and DXS7423 were analyzed in 182 Ewe individuals (108 females and 74 males) from the region of Sogakofe (Ghana). Allele frequencies and statistical parameter as well as comparison with known data from Germans and with data from an Amharic population (Ethiopia) are presented.     

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.     

Optimization and validation studies of the Mentype Argus X-8 kit for paternity cases

The use of ChrX-STRs is enormous in forensic case as these have proven to be powerful tools, mainly in deficiency paternity cases when the disputed child is female, and also some special cases involving blood relatives, incest cases, fetal typing in abortion material. The Mentype^® Argus X-8 kit is a commercial multiplex system which contains Amelogenin for gender determination as well as gonosomal STR markers (DXS8378, HPRTB, DXS7423, DXS7132, DXS10134, DXS10074, DXS10101 and DXS10135). Validation studies were being performed on blood obtained from the volunteers in Turkish population. In this study, some parameters were taken under consideration for validation like DNA extraction using different protocols, quantitated by using commercially available Invitrogen Qubit Fluorometer, reaction volume validation of Master Mix and the analysis of female/male, female/female and male/male mixtures were performed. The conditions were optimized and validated using GenAmp 9700 and reducing reaction volume from 25 μl to 12.5 μl and 6.5 μl. After reducing the total volume of the reaction, the results were same and there was no effect on peak height and quality when analyzed on ABI 310 genetic analyzer. 2 paternity cases were also performed which gave the same power of discrimination as has been mentioned in Mentype^® Argus X-8 kit.     

24个X-STR及7个Y-STR基因座复合扩增体系建立及法庭科学有效性验证

目的建立24个X-STR基因座及7个Y-STR基因座的复合扩增体系,进行24个X-STR基因座的遗传多态性调查,并评价该体系的法医学应用价值。方法采用六色荧光标记技术,对24个X-STR基因座(DXS6803,DXS10159,DXS10146,DXS7132,DXS10075,DXS8378,DXS7424,DXS101,DXS6795,HUMARA,DXS10074,DXS6801,DXS6789,DXS10135,GATA144D04,DXS7423,DXS10101,HPRTB,DXS10148,GATA165B12,DXS10103,DXS8377,DXS6797,DXS6810)进行复合扩增和毛细管电泳检测;调查山东汉族1057名无关男性个体24个X-STR基因座的遗传多态性,并对系统性能进行评价。结果本文建立的复合扩增体系中的24个X-STR基因座,在1057名个体中共检出1057种单倍型。方法特异性好,分型结果准确稳定,灵敏度达0.0625ng,实际案例常见生物检材的检验结果良好。结论该复合扩增检测体系可以用于实际案例检验,弥补商品化X-STR基因座复合扩增检测体系的不足,联合应用加入的Y-STR基因座适用于混合斑的鉴别。     

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。     

The Karimojong from Uganda: Genetic characterization using an X-STR decaplex system

The Karimojong, an African group from the Karamoja region of Northeast Uganda, were genetically analysed using a decaplex system for X chromosome short tandem repeats (X-STRs). A total of 255 individuals (117 males and 138 females) were genotyped for the following loci: DXS8378, DXS9898, DXS7133, GATA31E08, GATA172D05, DXS7423, DXS6809, DXS7132, DXS9902 and DXS6789. Allele frequencies and parameters for forensic evaluation were calculated for each STR. No association was found between any pairs of loci studied. DXS6789 was the most polymorphic marker in this sample, followed by DXS6809, with gene diversities of 84.79% and 83.94%, respectively. The less discriminating locus observed was DXS7133, with a gene diversity of 39.79%. High overall values of power of discrimination were obtained for female (1 in 1.8 × 10¹⁰) and male samples (1 in 1.6 × 10⁶), as well as high power of exclusion in father/mother/daughter trios (99.9997%), in father daughter duos (99.9862%) and in half sisters with same father (99.0331%). These results confirm the potential of this 10-plex in parentage testing and in human identification.     

X-chromosome STRs polymorphisms of Han ethnic group from Northwest China

Allele frequencies of 11 X-chromosome STRs loci, namely DXS7133, DXS6799, DXS8378, DXS7423, DXS6804, HPRTB, DXS7424, DXS7132, DXS6789, DXS101 and DXS1214, were determined from healthy unrelated individuals (110 female and 94 males) of Han ethnic group from Northwest China.     

Genetic characterization of an X-STR decaplex on the population of Pichincha (Ecuador)

This study reports data of ten X-STR markers (DXS8378; GATA172D05; DXS6809; DXS7132, GATA31E08, DXS9898, DXS7133, DXS7423, DXS9902, DXS6789) in Ecuadorian population from Pichincha (Sierra Region). To achieve these, we selected 100 non-related individuals that had signed informed consent (48 women and 52 men). They were typified using markers previously described by the Spanish and Portuguese ISFG Working Group (GEP-ISFG, 2008) and following their experimental recommendations.     

X-linked microsatellites in two Northern Spain populations

The X-chromosomal microsatellites HPRTB, DXS101, ARA, DXS7423, and DXS8377 were analysed by a pentaplex PCR in an expanded population sample from Cantabria and an independent sample of unrelated individuals from the Basque Country. Allele frequencies showed similar distributions, but minor variations were found for some loci.     

Genetic data of 10 X-STRs in a population sample from Lima,Perú

Genetic population data for 10 X-STR (DXS6789, DXS9902, DXS7132, GATA31E08, DXS7133, DXS9898, DXS8378, DXS6809, DXS7423 and GATA172D05) were obtained from Lima population. The present study results support the usefulness of these markers in kinship investigation and also in population genetics studies.     

Sequence variation and allele nomenclature for the X-linked STRs DXS9895, DXS8378, DXS7132, DXS6800, DXS7133, GATA172D05, DXS7423 and DXS8377

X-linked DNA markers are increasingly used in forensic kinship testing. This paper presents sequencing data of the short tandem repeats (STRs) DXS9895, DXS8378, DXS7132, DXS6800, DXS7133, GATA172D05, DXS7423, DXS8377 and proposes an allele nomenclature. Alleles were assigned according to the recommendations of the International Society of Forensic Genetics (ISFG) Commission.     

Updated allelic structures of the DXS10135 and DXS10078 STR loci

DXS10135 and DXS10078 are two highly polymorphic STR loci situated in two different linkage groups on the short arm of the human X chromosome. Both loci comprise complex tetrameric repeat units which may partially explain their high degree of polymorphism. DXS10135 is relatively well characterized and is included in a commercially available kit, while DXS10078 has not been well described. We sequenced a large number of alleles of both loci to try and understand the allelic variation and as a prelude to construct allelic ladders from cloned alleles. Our data show interesting features and should encourage other workers to use these loci in forensic genetic investigations.     

A new pentaplex system to study short tandem repeat markers of forensic interest on X chromosome

A new method has been optimised to amplify five X chromosome short tandem repeat (STR) markers of interest in forensic medicine: human phosphoribosyl transferase (HPRTB), DXS101, androgen receptor (ARA), DXS7423 and DXS8377. Markers were conveniently amplified in a single PCR reaction with fluorochrome-labelled primers, which allowed the analysis of fragment sizes after injection into a capillary electrophoresis system. The most common alleles of each locus were sequenced and used in a control ladder to type unknown samples.     

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).     

Polymorphism of four X-chromosomal STRs: DXS7423, DXS7424, DXS8378 and DXS6809 in a North Italian population sample and their use in kinship testing

The present study analyses three tetranucleotide (DXS7423, DXS8378, DXS6809) and one trinucleotide (DXS7424) X-linked STRs loci in a population sample of North Italy to evaluate their efficiency in forensic applications. The four loci were also used to solve a case of deficiency paternity, in which the question was to establish whether two women were half sisters.     

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.     

浙江汉族人群12个X-STR基因座遗传多态性调查

目的调查12个X染色体STR基因座在浙江汉族人群的遗传多态性,为法医学应用提供基础数据。方法应用ZJGA-X12荧光标记复合扩增系统,对浙江汉族468名无关男性个体与449名无关女性个体进行DXS7133、DXS8378、DXS981、DXS7424、DXS6789、DXS10159、GATA165B12、DXS101、DXS7423、GA-TA31E08、DXS10164、DXS10162这12个X-STR基因座的复合扩增,用ABI3130XL型基因分析仪对扩增产物进行检测,并统计这12个X-STR基因座的群体遗传学参数。结果获得12个X-STR基因座的等位基因频率分布,分别检出8、7、13、12、11、8、7、16、6、8、9、11个等位基因,获得男性样本DXS10159-DXS10162-DXS10164与DXS101-DXS7424两组连锁基因座单倍型119、62种;分别统计了12个X-STR基因座的GD、DP、MEC等法医遗传学参数。结论 12个X-STR基因座具有较强个体识别能力,可应用于法庭科学中的个体识别与亲权鉴定。