Genetic polymorphisms for 11 Y-STRs haplotypes of Chinese Yi ethnic minority group

Eleven Y-STRs loci including minimal haplotypes (DYS19, DYS389I, DYS389II, DYS390, DYS391, DYS392, DYS393, and DYS385a,b) and two additional loci, namely DYS438 and DYS439 have been co-amplified in 100 healthy unrelated males of Chinese Yi minority ethnic group using the Y-PLEX 5 and Y-PLEX 6 kit, in order to investigate allele and haplotype frequencies of Yi population, evaluate their usefulness in forensic paternity testing and human identification, and enrich Chinese population genetic informational resources. Out of a total of 100 individuals 85 showed different haplotypes, while 8 haplotypes occurred more than once. The overall haplotype diversity for 11 Y-STRs loci was 0.9945.     

Population genetics for Y-chromosomal STRs haplotypes of Chinese Tibetan ethnic minority group in Tibet

Y-chromosomal STRs loci were analyzed from a sample of 119 healthy unrelated autochthonous male individuals of Chinese Tibetan ethnic minority group using a multiplex PCR system. Allele and haplotype frequencies for DYS19, DYS389 I, DYS389 II, DYS390, DYS391, DYS392, DYS393, DYS385a,b, DYS438, and DYS439 were determined by the Y-PLEXtrade mark 12 kit. The gene diversity values for the Y-STRs loci ranged from 0.3347 (DYS438) to 0.9547 (DYS385a,b). A total of 110 haplotypes were identified in the Y-STR loci, among which 104 were unique, while six occurred more than once. The overall haplotype diversity for the Y-STRs loci was 0.9981, and the discrimination capacity was 0.9897. The results in the present study can be used for routine forensic application in the region, and enrich Chinese ethnical genetic informational resources.     

Haplotypes for 13 Y-chromosomal STR loci in South Tunisian population (Sfax region)

Nine Y-STR loci from the "minimal haplotype" (DYS19, DYS385a/b, DYS389I, DYS389II, DYS390, DYS391, DYS392, DYS393) included in Y-STR Haplotype Reference Databases (YHRD) with 4 additional Y-STRs (DYS436, DYS437, DYS438, DYS439) were analyzed by PCR using duplex and Y-PLEX 12 kit, followed by automatic genotyping in a sample of 105 Tunisian males originating from Sfax region (south Tunisia). Allelic frequencies and gene diversities for each Y-STR locus were determined. The high haplotype diversity (0.9932) and discrimination capacity (0.7714) show the usefulness of these loci for human identification in forensic studies and paternity tests in Tunisia. The most common haplotype was shared by 4.7% (5 individuals) of the sample was only found in samples from the Tunisian population reported in YHRD. One private allele for DYS392 (allele 17) was discovered and duplications were observed for five loci (DYS19, DYS389I, DYS393, DYS437 and DYS439).     

Nine-locus Y-chromosome STR profiling of Caucasian and Xhosa populations from Cape Town, South Africa

Y-chromosome STR markers are not widely used in forensic case work in South Africa. To begin assessing the forensic value of these markers in South Africa, samples were collected from 100 English-speaking Caucasian males and 99 Xhosa males, living in the Cape Town metropolitan area. Allele and haplotype frequencies were determined for nine Y-chromosome STR loci (DYS19, DYS389-I, DYS389-II, DYS390, DYS391, DYS392, DYS393, and the duplicated locus DYS385). Unique haplotypes were obtained for 47 Xhosa males and 66 Caucasians.     

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。     

Y chromosome STR haplotypes of Tibetan Living Tibet Lassa

Allele frequencies and haplotypes of the 17 Y-chromosome STRs loci, namely DYS19, DYS385a/b, DYS389I, DYS389II, DYS390, DYS391, DYS392, DYS393, DYS437, DYS438, DYS439, DYS448, DYS456, DYS458, DYS635 (YGATA C4), and YGATA H4 were determined in a sample of 131 healthy unrelated males from the Lassa area of Tibet Autonomy Region of China (SW China). In 131 samples 106 different haplotypes were encountered, of which 105 were observed only once. The overall haplotype diversity was 0.9998. The results demonstrate that these loci will be very useful for human identification in forensic cases and paternity tests in the Lassa region.     

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。     

Applying the 16 Y-chromosome STRs in the population of central Poland

Haplotype and allele frequencies for the panel of 16 Y-chromosome STR loci, namely DYS19, DYS385, DYS389I, DYS389II, DYS390, DYS391, DYS392, DYS393, DYS437, DYS438, DYS439, DYS448, DYS456, DYS458, DYS635 and Y GATA-H4 were determined in a population sample of 200 unrelated males from the central region of Poland. The 191 different haplotypes were identified, of which 182 haplotypes were unique and 9 were duplicated. None of observed haplotypes appears more than twice in the investigated population. The haplotype discrimination capacity was 0.955, and combined gene diversity was 0.9999. The analysed set of 16 Y-STRs is very useful in forensic practise to identify males and trace paternal lineages.     

Y-STRs haplotypes of Chinese Mongol ethnic group using Y-PLEX 12

Eleven Y-chromosome STR loci (DYS19, DYS389I, DYS389II, DYS390, DYS391, DYS392, DYS393, DYS385a,b, DYS438, DYS439) have been co-amplified in 96 healthy unrelated males of Chinese Mongol ethnic group, in order to investigate allele and haplotype frequencies of them, evaluate their usefulness in forensic casework.     

Population genetics for Y-chromosomal STRs haplotypes of Chinese Korean ethnic group in northeastern China

Y-chromosomal STRs loci were analyzed from a sample of 201 healthy unrelated male individuals of Chinese Korean ethnic group. Allele and haplotype frequencies for DYS19, DYS385a/b, DYS388, DYS389 I, DYS389 II, DYS390, DYS391, DYS392, DYS393, DYS437, DYS438 and DYS439 were determined by the general PCR and silver staining methods. The gene diversity values for the Y-STRs loci ranged from 0.4146 (DYS437) to 0.9631 (DYS385a/b). A total of 194 haplotypes were identified in the Y-STR loci, among which 188 were unique, while 6 occurred more than once. And the combined haploytpes diversity was 0.9996. The results in the present study can be used for routine forensic application in the region, and enrich Chinese ethnical genetic informational resources.     

Population data for Y-chromosome haplotypes defined by 17 STRs (AmpFlSTR YFiler) in Central Portugal

The 17 Y-chromosome STR loci (DYS19, DYS389I, DYS389II, DYS390, DYS456, DYS391, DYS392, DYS393 and DYS385 a/b, DYS458, DYS439, DYS635, GATA H4.1, DYS437, DYS438 and DYS448) were determined for 100 unrelated males, living in Central Portugal, using the AmpFlSTR YFiler PCR Amplification kit (Applied Biosystems).A total of 99 different haplotypes were found, with only two individuals sharing the same haplotype. The overall haplotype diversity (HD) was determined as 0.9998, a value similar to other Y Filer data sets.Y-STR polymorphisms in Central Portugal population, using YFiler, provide a powerful discrimination tool for routine forensic applications.     

Internal validation of the AmpFlSTR Yfiler amplification kit for use in forensic casework.

Y-chromosomal short-tandem repeat (Y-STR) amplification has been used in forensic casework at the Bureau of Criminal Apprehension (BCA) Forensic Science Laboratory since 2003. At that time, two separate amplifications were required to type the SWGDAM recommended loci (DYS19, DYS385a/b, DYS389I, DYS389II, DYS390, DYS391, DYS392, DYS393, DYS438, and DYS439). The Yfiler kit coamplifies these loci as well as DYS437, DYS448, DYS456, DYS458, DYS635, and Y GATA H4. The Yfiler kit was validated following the internal validations outlined in the SWGDAM revised validation guidelines. Our studies show that 0.125 ng of male DNA will generate a complete 17 locus profile and that as little as 0.06 ng of male DNA yields an average of nine loci. In the male-male mixtures, a complete profile from the minor component was detected up to 1:5 ratio; most of the alleles of the minor component were detected at a 1:10 ratio and more than half the alleles of the minor component were detected at a 1:20 ratio. Complete YSTR profiles were obtained when 500 pg male DNA was mixed with female DNA at ratios up to 1:1000. At ratios of 1:5000 and 1:10,000 (male DNA to female DNA) inhibition of the YSTR amplification was evident. The YSTR results obtained for the adjudicated case samples gave significantly more information than the autosomal results. Our studies demonstrate that the Yfiler kit is extremely sensitive, does not exhibit cross-reactivity with female DNA, successfully types male DNA in the presence of overwhelming amounts of female DNA and is successful in typing actual forensic samples from adjudicated cases.     

Internal Validation of the AmpFlSTR Yfiler™ Amplification Kit for Use in Forensic Casework

Abstract:  Y-chromosomal short-tandem repeat (Y-STR) amplification has been used in forensic casework at the Bureau of Criminal Apprehension (BCA) Forensic Science Laboratory since 2003. At that time, two separate amplifications were required to type the SWGDAM recommended loci (DYS19, DYS385a/b, DYS389I, DYS389II, DYS390, DYS391, DYS392, DYS393, DYS438, and DYS439). The Yfiler™ kit coamplifies these loci as well as DYS437, DYS448, DYS456, DYS458, DYS635, and Y GATA H4. The Yfiler™ kit was validated following the internal validations outlined in the SWGDAM revised validation guidelines. Our studies show that 0.125 ng of male DNA will generate a complete 17 locus profile and that as little as 0.06 ng of male DNA yields an average of nine loci. In the male–male mixtures, a complete profile from the minor component was detected up to 1:5 ratio; most of the alleles of the minor component were detected at a 1:10 ratio and more than half the alleles of the minor component were detected at a 1:20 ratio. Complete YSTR profiles were obtained when 500 pg male DNA was mixed with female DNA at ratios up to 1:1000. At ratios of 1:5000 and 1:10,000 (male DNA to female DNA) inhibition of the YSTR amplification was evident. The YSTR results obtained for the adjudicated case samples gave significantly more probative information than the autosomal results. Our studies demonstrate that the Yfiler™ kit is extremely sensitive, does not exhibit cross-reactivity with female DNA, successfully types male DNA in the presence of overwhelming amounts of female DNA and is successful in typing actual forensic samples from adjudicated cases.     

Development and validation of the AmpFlSTR Yfiler PCR amplification kit: a male specific, single amplification 17 Y-STR multiplex system

In the past 5 years, there has been a substantial increase in the use of Y-short tandem repeat loci (Y-STRs) in forensic laboratories, especially in cases where typing autosomal STRs has met with limited success. The AmpFlSTR Yfiler PCR amplification kit simultaneously amplifies 17 Y-STR loci including the loci in the "European minimal haplotype" (DYS19, DYS385a/b, DYS389I, DYS389II, DYS390, DYS391, DYS392, and DYS393), the Scientific Working Group on DNA Analysis Methods (SWGDAM) recommended Y-STR loci (DYS438 and DYS439), and the highly polymorphic loci DYS437, DYS448, DYS456, DYS458, Y GATA H4, and DYS635 (formerly known as Y GATA C4). The Yfiler kit was validated according to the FBI/National Standards and SWGDAM guidelines. Our results showed that full profiles are attainable with low levels of male DNA (below 125 pg) and that under optimized conditions, no detectable cross-reactive products were obtained on human female DNA, bacteria, and commonly encountered animal species. Additionally, we demonstrated the ability to detect male specific profiles in admixed male and female blood samples at a ratio of 1:1000.     

云南汉族家系Y—STR基因座突变率研究

目的研究Y—filer试剂盒中DYS19等基因座在云南省汉族家系样本中的突变率。方法应用Y—filer试剂盒中的DYS456等16个Y—STR基因座对云南省30个汉族家系爷／孙、叔／侄和兄弟／堂兄弟亲权关系的106份样本进行基因分型检测,对DYS19等基因座分型与家系其他成员不同的样本分别进行了单位点的测序。结果6个（周姓、徐姓、王姓、袁姓、许姓、李姓）不同父系姓氏7例样本的10个Y—STR基因座发生突变,分别是DYS19、DYS385各2例,DYS389Ⅰ、DYS389Ⅱ、DYS390、DYS458、DYS393、DYS635各1例,总突变率为5．549‰;王姓、袁姓、许姓家系中各有1例样本分别在2个Y—STR基因座上发生了突变。结论男性家系中随机样本Y—STR基因座的突变率高于父子对样本;用Y—STR基因座进行父系亲权鉴定和男性嫌疑人的家系排查时,既使有2个Y—STR基因座分型不同时也不要轻易排除其来源于同一父系家系。     

Developmental validation of the Microreader™ Y Prime Plus ID System: An advanced Y-STR 38-plex system for forensic applications

Y-STR is widely used in sexual assaults and familial searches of suspects. Here, we reported a novel 38-plex STR genotyping system designed for forensic applications. Microreader? Y Prime Plus ID System (YPP) amplifies 38 loci in one reaction, including 29 loci from commonly used Yfiler® Plus PCR Amplification Kit & PowerPlex® Y23 System (DYS393, DYS570, DYS19, DYS392, DYS549, Y GATA H4, DYS460, DYS458, DYS481, DYS635, DYS448, DYS533, DYS449, DYS456, DYS389I, DYS390, DYS389Ⅱ, DYS438, DYS391, DYS439, DYS437, DYS385a/b, DYS643, DYS518, DYS576, DYF387S1a/b, and DYS627), 6 commonly used loci for the Y-STR database (DYS444, DYS447, DYS596, DYF404a/b, DYS527a/b, DYS557) and one Y-indel specific for the Chinese population. YPP is designed for different types of samples, such as blood card and swabs. In this work, YPP was validated following SWGDAM guidelines (2016) and guidelines from Ministry of Public Security of the People’s Republic of China, including PCR-based, sensitivity, accuracy and precision, mixture, stability and inhibitor, and species specificity. The results indicate that the Microreader? Y Prime Plus ID System is a powerful identification kit designed for forensic databases.     

Population data on 11 Y-chromosome STRs from Guiné-Bissau

The forensic value of Y-STR markers in Guiné-Bissau was accessed by typing of 215 males. Allele and haplotype frequencies, determined for loci DYS19, DYS389-I, DYS389-II, DYS390, DYS391, DYS392, DYS393, DYS437, DYS438, DYS439 and the duplicated locus DYS385, are within the limits of variation found in other populations south of the Sahara. The level of discrimination achieved is Guineans is higher than for European or other African populations with comparable data. The haplotype diversity of 0.9995 is reduced to 0.9981 when the minimal haplotype is considered thus revealing the importance of increasing the number of typed loci.     

Allele frequencies and haplotypes of 12 Y-STR loci for the local Chinese population in Hong Kong

Haplotype frequencies were established for 12 Y-chromosome STR loci, including all loci recommended by Scientific Working Group on DNA Analysis Methods Y-STR Subcommittee (DYS391, DYS389I/II, DYS439, DYS393, DYS390, DYS385a/b, DYS438, DYS19 and DYS392) plus DYS437, in the local Chinese population in Hong Kong. In a sample of 481 unrelated males, it was possible to define 424 different haplotypes of which 388 were unique, 26 was found in two individuals, 2 were shared in three individuals, 5 were shared in four individuals and 3 were shared in five individuals. The allele diversity values for each locus ranged from 0.4273 (DYS438) to 0.9555 (DYS385a/b). The observed haplotype diversity value and discrimination capacity were 0.9992 and 0.8815, respectively. In a genetic study of these unrelated males, triple alleles were found at the DYS358 locus in six individuals. The combined Y-chromosome STR polymorphisms provide a powerful discrimination tool for routine forensic applications.     

复合扩增20个Y-STR基因座及其法医学的应用

目的建立20个Y-STR基因座的复合扩增体系,进行遗传多态性调查,并评价其法医学应用价值。方法采用五色荧光素标记技术,对20个Y-STR基因座(DYS391、DYS389Ⅰ、DYS390、DYS389Ⅱ、DYS438、DYS460、Y GATA H4、DYS456、DYS439、DYS635、DYS448、DYS393、DYS388、DYS437、DYS19、DYS392、DYS458、DYS447、DYS385 a/b)进行复合扩增和毛细管电泳检测;调查辽宁汉族376名无关男性个体20个Y-STR基因座的遗传多态性数据;并对系统性能进行检测。结果本文方法同时检测20个Y-STR基因座,在376名个体中共检出376种单倍型,基因多样性在0.371 1～0.969 8之间;方法特异性好,分型结果准确稳定,灵敏度达0.062 5ng,实际案例常见生物检材的检验结果良好。结论20个Y-STR基因座复合扩增检测法可以用于实际案例检验,调查所获数据对建立Y-STR数据库和相关研究和应用具有重要意义。     

Y-STR haplotypes in Central Anatolia region of Turkey

Allele frequencies and haplotypes of the 11 Y-chromosome STRs loci, namely DYS19, DYS385a/b, DYS389I/II, DYS390, DYS391, DYS392, DYS393, DYS438, and DYS439 were determined in a sample of 113 unrelated males from the Central Anatolia region of Turkey. In the 113 samples 106 different haplotypes were encountered, of which 100 were observed only once. The overall haplotype diversity was 0.9987. In the study, a duplication at locus DYS19 and locus DYS393 was observed. The results demonstrate that these loci will be very useful for human identification in forensic cases and paternity tests in the Central Anatolia region.