Duplications of the Y-chromosome specific loci P25 and 92R7 and forensic implications

In the present study, we demonstrate that two commonly used Y-chromosome single nucleotide polymorphisms (SNPs), P25 and 92R7, are paralogous sequence variants (PSVs) originating from segmental duplications and that at least one of the sequence variants in each group of loci is polymorphic. Several methodologies were used in order to detect the SNP alleles and the PSVs of the loci. All results obtained with the various typing techniques supported the conclusion. The allele distributions of the binary markers were analysed in more than 600 males with seven different haplogroups. For P25, the ancestral allele C was found in several samples from different haplogroups. The derived allele A was always present with an additional C variant. Haplogroup P was defined by the derived allele A at the 92R7 locus. However, the ancestral allele G was always associated with an A variant due to the duplication.     

云南汉族人群11个Y-STR基因座遗传多态性调查及法医学应用

目的调查11个Y-STR基因座及其单倍型在云南汉族人群中的遗传多态性分布,探讨其法医学应用价值,为法医学应用提供基础数据。方法应用Powerplex!Y系统对云南汉族201名无关男性个体进行11个Y-STR基因座的复合扩增,用ABI310型基因分析仪对扩增产物进行检测,统计其群体遗传学参数。结果Powerplex!Y系统前10个Y-STR基因座分别检出3、5、6、8、5、4、5、8、4、7个等位基因,DYS385a/b基因座检出56种单倍型;GD值最低为0.4273(DYS438),最高为0.9747(DYS385a/b);观察到11个Y-STR基因座共同构成的单倍型175种,其中有154种单倍型只出现1次,16种出现2次,5种出现3次,累计GD值为0.9984。结论11个Y-STR基因座具有较强的个体识别能力,可应用于云南地区汉族人群的个体识别与亲权鉴定。     

浙江汉族人群6个Y—STR基因座的遗传多态性调查及法医学应用

目的获得6个Y-STR基因座及其单倍型在浙江汉族人群中的遗传多态性分布,并探讨其法医学应用价值。方法应用Y-plex荧光标记复合扩增系统,对浙江汉族200名无关男性个体进行6个STR基因座的复合扩增,用ABI3100型基因分析仪对扩增产物进行检测,统计6个Y-STR基因座的群体遗传学参数。结果其中5个Y-STR基因座分别检出5、7、6、6、5个等位基因,DYS385基因座检出47种单倍型,GD值最低为0.4275(DYS391),最高为0.9584(DYS385);观察到6个Y-STR基因座共同构成的单倍型159种,其中有132种单倍型只出现1次,16种出现2次,6种出现3次,2种出现4次,2种出现5次,累计GD值为0.9967。结论6个Y-STR基因座具有较强的个体识别能力,可应用于浙江法庭科学中的个体识别与亲权鉴定。     

Mutations at Y-STR loci: implications for paternity testing and forensic analysis

Knowledge about mutation rates and the mutational process of Y-chromosomal short-tandem-repeat (STR) or microsatellite loci used in paternity testing and forensic analysis is crucial for the correct interpretation of resulting genetic profiles. Therefore, we recently analysed a total of 4999 male germline transmissions from father/son pairs of confirmed paternity (probability > or = 99.9%) at 15 Y-STR loci which are commonly applied to forensics. We identified 14 mutations. Locus specific mutation rate estimates varied between 0 and 8.58 x 10(-3), and the overall average mutation rate estimate was 2.80 x 10(-3) (95% CIL 1.72 x 10(-3)-4.27 x 10(-3)). In two confirmed father/son pairs mutation at two Y-STRs were observed. The probability of two mutations occurring within the same single germline transmission was estimated to be statistically not unexpected. Additional alleles caused by insertion polymorphisms have been found at a number of Y-STRs and a frequency of 0.12% was estimated for DYS19. The observed mutational features for Y-STRs have important consequences for forensic applications such as the definition of criteria for exclusions in paternity testing and the interpretation of genetic profiles in stain analysis. In order to further enrich our knowledge of Y-STR mutations we suggest the establishment of a Y-STR mutation database and ask the forensic community for data contribution.     

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。     

Validation and uses of a Y-chromosome STR 10-plex for forensic and paternity laboratories

Y-chromosome short tandem repeats (Y-STRs) provide valuable information in cases of rape and questioned paternity, and they allow for the genetic identification of male lineages. The present study validated a Y-STR 10-plex on the ABI PRISM 3100 Genetic Analyzer for use in forensic and paternity laboratories at Orchid Cellmark. Following optimization of the polymerase chain reaction, father-son pairs were analyzed to ensure that each pair generated identical haplotypes. This study demonstrated that the 10-plex is sensitive to 0.125 ng of input DNA and that female samples mixed with male samples did not interfere with Y-STR haplotyping. In a sample of 525 males, there were three instances of locus multiplication, two at DYS19 and one at DYS435. Overall, haplotype diversity was 0.996, suggesting that the 10-plex can effectively distinguish among male lineages.     

Age and ossification of the hyoid bone: forensic implications

Hyoid bones from a medical examiner population were visually and radiographically examined to determine the presence or absence of bony fusion of the greater cornua to the central body. Fusion was found to increase in frequency with age. Hyoid bones fused more frequently in males than in females. Females showed an especially high frequency of unilateral nonfusion.     

48个X-SNP位点的筛选及法医学应用价值分析

目的对筛选出的48个X-SNP位点进行遗传学分析,评价其法医学应用价值。方法根据NCBI和Hap-Map网站提供的位点信息筛选出48个高信息量X-SNP位点,利用SNPlexTMSystem技术平台进行分型检测,通过中国华东地区汉族人群200个无关个体的调查建立遗传学资料,对48个X-SNP位点的遗传多态性进行研究分析,并进行连锁不平衡检验。结果除rs6527549外,筛选出的48个X-SNP位点在中国华东汉族人群中具有高信息量,多态信息含量均在0.32以上,个体识别率在女性群体和男性群体分别为0.56和0.40以上,非父排除率在二联体和三联体中分别为0.20和0.32以上。检验发现,部分位点存在连锁不平衡现象。结论本实验选取的48个X-SNP位点分型结果稳定,重复性好,在法医生物学研究中具有较高的应用价值,适于开展大规模的高通量检测。     

The efficiency of Y-chromosome markers in forensic trace analysis and their inclusion in the Austrian National DNA Database

Y-STR markers are a valuable tool in the analysis of biological traces in which a mixture of male and female trace material is to be expected. It is possible to generate a Y-chromosome DNA profile, even if all the prior sperm tests are negative and no sign of any male component is found in amelogenin. In 38 of a total of 239 sexual offences a perpetrator trace was identified solely using Y-STR analysis. Based on these findings, the Austrian National DNA Database was expanded to include Y-STRs in 2012 with the primary objective to identify serial sexual offences.     

DNA Commission of the International Society of Forensic Genetics: recommendations on forensic analysis using Y-chromosome STRs

During the past few years, the DNA Commission of the International Society of Forensic Genetics has published a series of documents providing guidelines and recommendations concerning the application of DNA polymorphisms to the problems of human identification. This latest report addresses a relatively new area — namely, Y-chromosome polymorphisms, with particular emphasis on short tandem repeats (STRs). This report addresses nomenclature, use of allelic ladders, population genetics and reporting methods.     

珠海地区汉族人群10个Y-STR基因座的多态性

目的 调查珠海地区汉族人群10个Y-STR基因座及其单倍型的遗传多态性，探讨其法医学应用价值。方法 应用Y-PLEX荧光标记复合扩增系统，对珠海地区汉族200名无关男性个体进行10个Y-STR基因座的复合扩增，用ABI310型基因分析仪对扩增产物进行检测，统计10个Y-STR基因座的群体遗传学参数。结果 9个Y-STR基因座分别检出5、6、6、5、4、5、5、5、7个等位基因，DYS385基因座检出44种单倍型；GD值最低为0.3904(DYS391)，最高为0.9497(DYS385)；10个Y-STR基因座共同构成的单倍型161种，其中134种单倍型只出现1次，20种单倍型出现2次，3种单倍型出现3次，3种单倍型出现4次，1种单倍型出现5次，累计GD值为0.9948。结论 10个Y-STR基因座具有较高的个体识别能力，可应用于法庭科学中的个体识别与亲权鉴定。     

Haplotype frequencies of 16 Y-chromosome STR loci in the Barcelona metropolitan area population using Y-Filer kit

Haplotype frequencies for 16 Y-chromosomal short tandem repeat (STR) loci, included in the Y-Filer kit, were determined in 247 unrelated healthy individuals from the Barcelona metropolitan area (Catalonia, NE Spain). After PCR amplification and denaturing PAGE electrophoresis, DYS456, DYS389I, DYS390, DYS389II, DYS458, DYS19, DYS385a/b, DYS393, DYS391, DYS439, DYS635, DYS392, Y GATA H4.1, DYS437, DYS438 and DYS448 loci were typed. The aim of this study is to evaluate the performance in our population of the 16 loci of the Y-chromosome present in the new Y-Filer commercial identification kit, and acquire haplotype frequencies for mathematic processing of the forensic diagnosis in our geographical working area. In this sample, all haplotypes were unique. From the forensic point of view, the combined polymorphisms of the Y-Filer kit provide a high diagnostic efficiency.     

Analysis of AmpFlSTR MiniFiler™ loci and its forensic application

The allele frequencies of eight MiniFiler™ loci have been analyzed in 101 Japanese individuals living in Kanagawa with informed consent by means of ABI 310 Genetic Analyzer. A total of 7 alleles for D13S317, 8 alleles for D7S820, 11 alleles for D2S1338, 11 alleles for D21S11, 5 alleles for D16S539, 14 alleles for D18S51, 8 alleles for CSF1PO, and 13 alleles for FGA were observed. The polymorphic profiles of these MiniFiler™ loci in the present study were essentially the same as those obtained by using the AmpFlSTR^® Identifiler^® PCR Amplification kit. The combined matching probability of eight MiniFiler™ loci and cumulative probability of paternity exclusion were estimated as 1.97 × 10⁻¹⁰ and 0.9996, respectively. The MiniFiler™ kit was useful for individual identification in forensic analysis.