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.     

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.     

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.     

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).     

Polymorphism of eight X-chromosomal STRs in a Japanese population

Eight X-chromosomal short tandem repeat (X-STR) markers were analyzed in 258 unrelated Japanese (144 males and 114 females) using Mentype^® Argus X-8 PCR Amplification Kit (Biotype AG) which contains DXS7132, DXS7423, DXS8378, DXS10074, DXS10101, DXS10134, DXS10135 and HPRTB. The DXS10135 locus proved to be highly polymorphic marker (PIC: 0.945) and the DXS7423 showed the lowest value (PIC: 0.453). The exact test for genotype distribution showed no significant deviation from the Hardy-Weinberg equilibrium.     

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.     

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.     

Four X-chromosomal STRs and their allele frequencies in a Chinese population

X-chromosomal markers are particularly useful for solving complex problems relating to kinship and deficiency paternity analysis. In the present study, population genetics data of four X-chromosomal short tandem repeats (STRs) DXS8378, HPRTB, DXS7423 and DXS7132 were obtained by analyzing 500 unrelated Chinese individuals (250 males and 250 females). Population genetics data obtained from the Chinese were compared with those of the Asian and European population. Mutations in X-chromosomal markers were analyzed based on a total of 61 proven father-child and 45 proven mother-child pairs.     

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.     

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.     

Analysis of 8 STR of the X-chromosome in two Italian regions (Umbria and Sardinia)

Eight X-chromosome STR were investigated in two groups of individuals from two Italian regions, Umbria and Sardinia. These two regions have a very different history. Umbria, situated in the centre of Italy and without defensive natural barriers, in the course of the centuries has been object of many invasions and appropriations by foreign people. On the contrary, Sardinia, an island in the centre of the Mediterranean sea, has endured a minor number of foreign invasions. The ChrX markers were amplified in a pentaplex (DXS6789, DXS7423, DXS6807, DXS101, DXS8377) and a triplex (DXS10074, DXS10075, DXS10079) that represents a haplotype. The DNA was extracted from 200 blood samples using the QIAmp DNA Minikit (Qiagen™). Amplification products were detected on an ABI PRISM 310 Genetic Analyzer (Applied Biosystems), using the same dye labels, run conditions, standard (GeneScan 500 Liz) and matrix file of AmpFlSTRIdentifiler. Statistical analyses for all the loci and intergroup comparisons between the two regional groups of individuals were performed.     

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].     

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.     

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.     

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。     

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.     

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.     

Development of a heptaplex PCR system to analyse X-chromosome STR loci from five Italian population samples. A collaborative study

Many X-chromosome short tandem repeats (X-STRs) have been validated for forensic use even if further studies are needed on allele frequencies and mutation rates to evaluate the extent of polymorphism in different populations and to establish reference databases useful for forensic applications and for anthropological studies. A single multiplex reaction of seven X-STRs, which includes the DXS6789, HUMARA, DXS10011, DXS7423, HPRTB, DXS6807, DXS101 loci, is presented and their allele frequency distribution in a large population sample including 556 subjects (268 females and 288 males) analysed by five forensic laboratories of Central and Northern Italy is shown. Our results demonstrate the feasibility of a single amplification/detection reaction involving seven markers of the X chromosome, which can be fruitfully used in complex kinship analysis.     

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。