中国鄂温克族DXS7423，DXS7424，DXS7132，DXS7133，DXS6804位点多态性的研究

目的以无关个体为研究对象,研究鄂温克族人群X染色体5个STR位点的遗传多态性,建立群体遗传数据库。方法用聚合酶链反应(PCR)、变性聚丙烯凝胶电泳和银染的方法,检测98名中国鄂温克族DXS7423,DXS7424,DXS7132,DXS7133,DXS6804位点的重复序列长度的变化。结果5个STR位点在鄂温克族群体均具有遗传多态性,χ2检验表明多态性分布符合Hardy-Weinberg平衡定律。结论中国鄂温克族X染色体5个STR基因座群体遗传数据资料,可用于法庭科学个体识别、亲子鉴定及其他人类学研究。     

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.     

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 polymorphisms at the DXS6789, DXS8377 and DXS101 loci in three Asian populations

Sequence analyses of X-chromosomal short tandem repeats, DXS6789, DXS8377 and DXS101 were performed for representatives of 3 Asian populations: 130 Japanese, 61 Bangladeshi and 89 Indonesian males. At DXS6789, the sequence polymorphism was found in 7 alleles in the Japanese, 3 in the Bangladeshis and 3 in the Indonesians. At DXS8377, the sequence polymorphism was found in 13 alleles in the Japanese, 9 in the Bangladeshis and in all alleles identified in the Indonesians. At DXS101, the sequence polymorphism was found in 7 alleles in the Japanese, 9 in the Bangladeshis and 8 in the Indonesians. Because sequence polymorphisms were found in most of the alleles at the DXS6789, DXS8377 and DXS101 loci, it was concluded that sequencing was essential for identifying the alleles at these loci in all 3 Asian populations.     

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。     

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.     

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.     

Validation of the X-linked STR DXS6801

This paper presents sequence and population genetic data of the X-linked microsatellite marker DXS6801 (GDB:G00-365-276) which is a tetranucleotide repeat polymorphism representing eight alleles 109-141 bp in length. Data were obtained from a sample of 1146 unrelated German individuals. DXS6801 is located 99.7 cM from Xptel, nearby DXS6809 [Int. J. Legal Med. 117 (2003) 241] and DXS6789 [Forensic Sci. Int. 119 (2001) 42] in Xq21. The new marker could be added to the panel of ChrX STRs, especially usable as a part of the Xq21 linkage group.     

广东汉族群体DXS6854基因座的多态性

目的调查X染色体特异性基因座DXS6854在广东汉族群体的多态性。方法利用PCR和聚丙烯酰胺凝胶电泳及银染法显色技术进行基因分型。结果在广东汉族189名无关女性个体及230名无关男性个体中,发现了8个等位基因。等位基因频率分布在0.0026—0.4522之间,女性的基因型分布符合Hardy—Weinberg平衡,女性和男性个体的个体识别率(DP)分别为0.8633和0.7012。三联体检验非父排除率(PE)为0.6712。结论DXS6854有较高的个体识别率和亲权排除率,在个人识别和女孩的亲权鉴定中有应用价值。     

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.     

Molecular characterization of a null allele at locus DXS8378

Typing of X-chromosomal short tandem repeat (STR) loci in a deficiency paternity case revealed a single Mendelian incompatibility between a female child and her putative grandmother, consisting of an opposite homozygosity at locus DXS8378. The presence of a null allele due to a primer binding site mutation on the child's paternally inherited X chromosome was confirmed by amplification with newly designed DXS8378 external primers. Sequencing analysis showed a point mutation (C > T transition at position 168, according to GenBank accession G08098) in the binding site of the original DXS8378 reverse primer.     

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。     

X染色体STR单倍型DXS7424-DXS101遗传多态性

目的研究X染色体STR单倍型DXS7424-DXS101在汉族群体中的法医学特征及其分布特点。方法本实验应用PCR和聚丙烯酰胺凝胶电泳及银染技术对DXS7424和DXS101位点进行基因分型,利用相关统计方法进行数据分析。结果汉族151个男性样本中共检出37种单倍型,频率分布在0.0066～0.1391,GD值为0.9453,DP值达到0.9389,最常见单倍型为16-23。结论DXS7424-DXS101作为单倍型分析在汉族群体中具有较高的个体识别率和非父排除率,在法医学特殊亲权鉴定中具有良好的应用前景。     

Development of the X-linked tetrameric microsatellite marker DXS9898 for forensic purposes

HumDXS9898 also known as CHLC x GATA 126G01 is a tetrameric microsatellite marker located at the Xq21.33 pericentromeric region. In kinship testing HumDXS9898 is suitable for concomitant use with HumHPRTB and HumDXS6807 which are separated from HumDXS9898 by genetic map distance of 150 and 80 cM, respectively. HumDXS9898 is closely linked to HumARA. In the German population, HumDXS9898 exhibits seven clearly distinguishable alleles ranging from 189 to 214 basepairs in size. Deviation from Hardy-Weinberg equilibrium could not be detected. The observed heterozygosity was 0.75 for females and the mean exclusion probability was 0.73 for female children. Mutations were not found in the present material.     

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.