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.     

Genetic data of 10 X-STRs in a Spanish population sample

In this work, we present population genetic data of 10 X-chromosome STRs (DXS8378, DXS9898, DXS8377, HPRTB, GATA172D05, DXS7423, DXS6809, DXS7132, DXS101 and DXS6789) obtained from sample of 145 unrelated female individuals belonging to Valencia (Spain), a region located in the east of the Iberian Peninsula. All the markers studied present high genetic diversities, similar to those previously reported in other European population samples. No deviations from Hardy-Weinberg equilibrium were observed, with the exception of DXS101 locus. Allele frequencies and parameters of forensic interest for each X-STR were calculated. High mean exclusion chance and power of discrimination values were obtained by combining these 10 X-linked markers. Population comparisons (exact test of population differentiation; pairwise genetic distances) were carried out and low genetic distances were found between our sample and those from other Spanish or European regions.     

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 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.     

Development of a pentaplex X-chromosomal short tandem repeat typing system and population genetic studies

Quadruplex and pentaplex systems for polymerase chain reaction amplification of X-chromosomal short tandem repeats DXS101, HPRTB, DXS8377, DXS981 (STRX1) and DXS6789 were developed for automated profiling of liquid and membrane-bound DNA samples. Chinese, Japanese and Thai populations were typed using a quadruplex system, while German and Philippine populations were analyzed using a five-locus system. Out of 88 meioses studied in Philippine family samples at each locus, a possible one repeat deletion (allele 51 to 50) at DXS8377 was observed in a father-daughter pair. Exact tests performed on genotype data from females in the Philippine, German and Thai populations indicated that these groups conform to Hardy-Weinberg equilibrium. Exact tests for population differentiation indicate significant variations in allele distributions, particularly at loci DXS101, DXS981 and DXS6789. Considered individually, DXS8377 was the most polymorphic and HPRTB the least polymorphic locus in these five populations. When the forensic efficiency of the quadruplex system was calculated, the combined power of discrimination among males (PD(M)) was no lower than 0.998, while among females the combined PD(F) was at least 0.9999 in all populations. The combined power of paternity exclusion was a minimum of 0.998 in trio cases and 0.98 in motherless cases. The addition of locus DXS6789 to the German and Philippine population databases using a pentaplex increased the forensic efficiency of the analysis system.     

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。     

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.     

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.     

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.     

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.     

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.     

A X-chromosome STR hexaplex as a powerful tool in deficiency paternity cases

The X-chromosome short tandem repeat (STR) markers have been described as very adequate tools for solving deficiency paternity cases and kinship tests when women are involved. In the absence of the alleged father, presumed paternal relationship can be more efficiently investigated by using a set of six to ten X-STR markers compared to fifteen autosomal STR. For this study, we compared the usefulness of a X-STR hexaplex developed in our laboratory (DXS7133, DXS7424, DXS8378, DXS6807, DXS7423 and DXS8377) and the commercial kit Identifiler in solving deficiency paternities. We have worked on distinct groups of caseworks involving daughters, their mothers and presumed paternal grandmothers or putative half sisters and their respective mothers. The PCR products were separated by capillary electrophoresis and detected in an ABI Prism 3100. In the majority of the caseworks (>90%), the likelihood ratio (LR) obtained by using the X-STR hexaplex was higher than the LR value observed when the Identifiler kit was used for genotyping. The combination of the two STR typing systems was able to solve all the cases.     

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).     

广东汉族DXS10011和DXS8377单体型

目的调查DX10011和DXS8377两个X染色体STR在广东汉族男性群体中的遗传多态性。方法DNA样本来自广东汉族男性无关个体,PCR后用聚丙烯酰胺凝胶电泳和银染法进行DNA分型。结果在113名个体中,DXS10011和DXS8377分别检出20和12个等位基因。DXS10011-DXS8377共有72种不同的单体型,最多见的单体型只出现了3次。在没有母亲时,DXS10011-DXS8377的女孩的非父排除率为0.9588。在83个孩子为女孩的三联体家系和29个有两个孩子的家系中,DXS10011和DXS8377均表现为共显性连锁遗传,且没有发现突变。结论本数据表明DXS10011和DXS8377在复杂的亲权鉴定中可提供高的遗传多态性信息。     

The X-linked STRs DXS7130 and DXS6803

This paper presents sequence and population genetic data of two new X-linked microsatellite markers, suitable for forensic purposes. Data were obtained from a sample of unrelated German individuals (male and female). Two highly informative markers could be added to the panel of ChrX STRs [J. Edelmann, S. Hering, M. Michael, R. Lessig, D. Deichsel, G. Meier-Sundhausen, L. Roewer, I. Plate, R. Szibor, 16 X-chromosome STR loci frequency data from a German population, For. Sci. Int. 124 (2001) 215-218; J. Edelmann, D. Deichsel, S. Hering, I. Plate, R. Szibor, Sequence variation and allele nomenclature for the X-linked STRs DXS9895, DXS8378, DXS7132, DXS6800, DXS7133, GATA172D05, DXS7423 and DXS8377, For. Sci. Int. 129 (2002) 99-103].     

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.     

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.     

Allele distribution of three X-chromosome STR loci in an antioquian 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 aim of this study was to describe the polymorphism of three X-chromosomal STR loci (DXS6797, DXS6800 and HPRTB) in an Antioquian (Colombian) population sample. PCR products were separated in 4% acrylamide-bis-acrylamide denaturing gels followed by silver staining. Allele size determination and genotyping were performed according to recommendations of the DNA Commission of the International Society of Forensic Genetic using the allelic ladder manufactured at home and based on DNA controls including K562 and 9947A (Promega). Gene frequencies were calculated using ARLEQUIN version 3.11. Population genetic data were obtained by analyzing 127-400 unrelated males and 135 unrelated females from Antioquian (Colombian) population. Distribution of the allele frequencies of these systems for Antioquia population is similar to the European populations.     

12个mini-X-STR和Amel基因座荧光标记复合扩增体系的初步研究

目的研究建立12个mini-X-STR和Amel基因座复合扩增体系。方法选择DXS101、DXS10159、DXS10162、DXS10164、DXS6789、DXS7133、DXS7423、DXS7424、DXS8378、DXS981、GATA165B12和GA-TA31E08共12个X-STR与Amelogenin基因座,自行设计引物,分别采用FAM、HEX、Tamra、ROX四色荧光标记5′端,并进行必要的修饰,按照合适的引物浓度进行混合。对97个血痕样本进行复合扩增,并用ABI3130XL进行电泳和分型。结果所建立的荧光标记复合扩增体系能够得到清晰、明确的分型图谱,灵敏度达50pg,稳定性、重复性与平衡性较佳。结论本研究建立的12个mini-X-STR和Amel基因座荧光标记复合扩增体系统检验方法简单,灵敏度高,适合实际办案的需要。