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.     

Genetic polymorphisms of 16 X-STR loci in the Hani population from Southwest China

X chromosomal short tandem repeats (X-STRs) have the characteristics of both autosomal and uniparental genetic markers and have been shown to be particularly useful in forensic casework. However, relevant research or reports have not focused on X-STRs in the Hani population. To investigate the genetic variation and forensic efficiency of 16 X-STR loci in the Hani ethnic minority, we calculated the allele frequencies and forensic parameters of 451 (116 males and 335 females) unrelated healthy Hani individuals from Yunnan Province, Southwest China. All these loci are highly polymorphic in Hani individuals in Yunnan Province except DXS6800. The combined power of discrimination in males (PD_M) and power of discrimination in females (PD_F) were found to be 0.999 999 998 433 993 and 0.999 999 999 999 998, respectively. Furthermore, a population genetic structure investigation between the Yunnan Hani population and another 18 populations was performed using a principal component analysis, multidimensional scaling plot and neighbouring-joining phylogenetic tree and the findings illustrated that neighbouring populations and different nationalities in the same area appeared to have a closer evolutionary relationship. This study provides the first batch of X chromosome genetic polymorphism data of the Hani population in Yunnan Province, Southwest China and enriches the reference database of the Chinese minority population.

Key points

• This is the first study of X-STR in the Hani population.
• We calculated the allele frequencies and forensic parameters of 451 unrelated healthy Hani individuals from Yunnan Province, Southwest China.
• All these loci are highly polymorphic in Hani individuals in Yunnan Province except DXS6800.
• The genetic relationship between the Hani and other 18 nationalities was analyzed.
• This study provides the first batch of X chromosome genetic polymorphism data of the Hani population in Yunnan Province, Southwest China and enriches the reference database of the Chinese minority population.

     

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.     

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。     

常染色体STR和X染色体STR联合应用于姑侄和叔侄关系鉴定

目的通过对常染色体STR和X染色体STR基因座进行分型检验,探讨姑侄、叔侄关系的鉴定策略。方法提取案例中被检女孩和另外3名个体（女性2名,疑为被检女孩的姑姑;男性1名,疑为被检女孩的叔父）的血样DNA,采用Goldeneye 20A系统和AGCU 21＋1系统分别进行常染色体STR基因座的复合PCR扩增,用Mentype○RArgus X-12试剂盒和本室自主研制的16重X染色体STR扩增体系分别进行X染色体STR基因座的复合PCR扩增,用3130 XL遗传分析仪进行毛细管电泳和基因型分析。结果依据常染色体STR基因型结果及姑侄、叔侄关系指数计算结果,不排除2名被检姑姑和与被检女性存在姑侄关系;不排除被检叔叔和与被检女性存在叔侄关系,X染色体STR分型结果支持此鉴定意见。结论对于姑侄、叔侄关系鉴定案例,X染色体STR基因座是常染色体STR基因座的良好补充,两者联合运用可获得可靠的鉴定意见。     

广东壮族群体12个X-STR基因座的遗传多态性

目的 调查广东壮族群体DXS10103等12个 X-STR基因座的遗传多态性.方法 采用Investigator Argus X-12体系对200名广东壮族无关个体（男性100名,女性100名）进行12个X-STR的DNA分型.结果 该群体中12个X-STR基因座共检出143个等位基因,等位基因频率为0.0033～0.6433,等位基因分布均符合Hardy-Weinberg平衡.DXS10103与DXS10101基因座间存在连锁不平衡.各基因座的多态信息含量（PIC）为0.3944～0.9159,男性个体识别力（DPm）和女性个体识别力（DPf）分别为0.4815～0.9214和0.6441～0.9884,二联体和三联体的平均非父排除率分别为0.2625～0.8501（MECduo）和0.3944～0.9159（MECtrio）.累积男性个体识别力（CDPm）为0.999999998,累积女性个体识别力（CDPf）为0.999999999,累积二联体非父排除率（CMECduo）为0.999998271,累积三联体非父排除率（CMECtrio）为0.999999989.结论 Investigator Argus X-12系统在广东壮族群体中具有高度的多态性,本实验获得的群体数据可用于个体识别及亲缘关系鉴定案件的评估参考.     

云南怒族X染色体5个STR基因座遗传多态性

目的以云南怒族无关个体为研究对象,调查怒族群体DXS6804、DXS6799、DXS8378、DXS7130、DXS7132基因座的基因频率及基因型频率分布,建立群体遗传数据库。方法用聚合酶链反应(PCR)、变性聚丙烯酰胺凝胶电泳结合银染的方法,检测100名云南怒族个体X染色体上5个STR基因座的重复序列长度变化。结果云南怒族群体5个STR基因座具有遗传多态性,χ2检验表明多态性分布符合Hardy-Weinberg平衡定律。结论云南怒族群体DXS6804、DXS6799、DXS8378、DXS7130和DXS7132基因座,可用于法医学个体识别、亲子鉴定等研究。     

Study of 16 X-STRs in a prostate cancer population sample (preliminary results)

Prostate cancer, like numerous other cancers is a result of genetic alterations that accumulate during disease progression. Study of short tandem repeats (STRs) have already demonstrated that this type of polymorphism could provide a mean to rapidly scan genomes at known or unknown predisposing loci for some diseases. In this study, DNA samples of 282 unrelated males with prostate cancer and 101 apparently healthy and unrelated males were analysed with Argus X-8 (Biotype^®) and 77 with a new X-Decaplex used in a collaborative study of GEP-ISFG.     

Mentype~ Argus X-8试剂盒在亲权鉴定中的应用价值

目的 验证Mentype Argus X-8试剂盒在中国人群中的应用价值.积累该试剂盒中所包含的8个X-STR基因座在中国人群中的遗传学数据.方法 应用Mentype Argus X-8试剂盒对华东地区177名汉族无关个体的血样以及104例二联体亲权鉴定案例进行X-STR分型.统计分析试剂盒中所包含的8个X-STR基因座的频率分布及遗传多态性信息.结果 8个X-STR基因座在中国人群中的多态性信息量在0.4454-0.9187.其中以DXS10135和DXS10101的多态信息含量最为丰富,在亲权鉴定案例中的排除率亦最高.除DXS7132基因座外,其余7个基因座在男性及女性群体中的分布差异无统计学意义.另外,中国人群中检测到一些新的等位基因:DXSl0074(等位基因15.3)、DXS10101(等住基因36)和DXS10134(等位基因37.3). 结论 Mentype Argus X-8试剂盒所包含的8个基因座具有高度多态性,在特殊亲权案件的鉴定中具有重要的应用价值.     

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.     

Genetic investigation of Chinese she ethnic based on autosomal STRs and X-STRs

The She ethnic is a large minority in China with approximately 700,000 individuals. For more than one thousand years, they mainly resided in Zhejiang and Fujian provinces. To obtain a better understanding of the genetic background of She, we investigate 21 autosomal STRs (A-STRs) and 16 X-STRs in 296 unrelated healthy individuals from Zhejiang She population. Allele frequencies and forensic parameters prove these markers are useful for forensic application. We also investigate the genetic background with the two types of markers. Nei genetic distances between She and Eastern Han population are always the lowest, regardless of the markers used for analysis. Although the tested STRs are located on different chromosomes with different inheritance laws, A-STRs and X-STRs provided in general congruent phylogenetic signal and similar cluster among compared groups. These results demonstrated that geographic isolation and interactions play significant roles in differentiation of genetic constitution of ethnic groups.     

Y-chromosome STR haplotypes in three different population groups from Ecuador (South America)

POPULATIONS: Over 102 unrelated Mestizos, 102 Native Amerindian (Kichwas), and 102 African Americans who represent the three largest communities of the country Ecuador (South America).     

Population genetic data of five X-chromosomal loci in Bauru (São Paulo, Brazil)

Genetic population data for five X-STR (DXS6854, DXS7424, DXS101, DXS6808 and DXS7132) were obtained from Bauru population (São Paulo, Brazil). No deviations from the Hardy-Weinberg equilibrium were observed, with the exception of DXS101. The combined powers of discrimination in males and females were 0.99897253 and 0.99999120, respectively. These high values show the potential of this system in human identification and paternity testing.     

Genetic STRs variation in a large population from Tuscany (Italy)

Allele frequencies for 17 STRs, together with some parameters of forensic interest, were estimated in a sample of 835 unrelated individuals born in Tuscany, an Italian region. These data were compared with Italian, Chinese, Kosovo Albanian, Romanian and Tunisian populations, strongly represented in this area. No significant differences in single loci were detected, except for Chinese in comparison with all the other populations.     

Genetic characterization of a population from Cauca Department with 15 STRs markers

This study established allele frequencies and some parameters of forensic interest with 15 autosomal STRs markers in a sample of 172 unrelated individuals from the Department of Cauca – Colombia using the PowerPlex^® 16 BIO System (Promega CO) and Qiagen Multiplex PCR (Qiagen) kits. All markers analyzed showed more than 61% of heterozygosity. Penta E and Penta D were the only systems that are not in Hardy Weinberg equilibrium (p < 0.0033) after Bonferroni correction. The probabilities of paternity (W), the power of exclusion (PE) and of discrimination (PD) accumulated for all loci analyzed were 0.9999, 0.9999 and >0.9999, respectively. The parameters of forensic interest have values suitable for routine use in forensic genetics.     

Genetic analysis of 15 STR loci in the population of Zhejiang Province (Southeast China)

Fifteen autosomal STR loci were analyzed from a population sample of 598 unrelated individuals residing in Zhejiang Province. We report allele frequencies distribution and statistical parameters for all 15 STR loci, D8S1179, D21S11, D7S820, CSF1PO, D3S1358, THO1, D13S317, D16S539, D2S1338, D19S433, VWA, TPOX, D18S51, D5S818 and FGA. Allele frequencies, the observed heterozygosity (Ho), the polymorphic information content (PIC), and the probability of paternity exclusion (PE) were calculated. All loci were in accordance with Hardy–Weinberg equilibrium (P > 0.05). Our studied population data were compared with the previously published population data of other ethnic groups or areas in China. Our results of present study were valuable for human identification and paternity tests in Zhejiang Province.     

Genetic ancestry in Afro-descendants from the Andes and Pacific Coast regions of Ecuador

This study aimed to investigate genetic diversity and ancestry in Afro-descendants from the Andes (AN) and the Pacific Coast (PC) regions of Ecuador, using autosomal and lineage markers. CR-mtDNA and PPY23-STRs showed high haplotype diversities. Statistically significant differences were found between AN and PC. Due to different patterns of sex-biased matting, differences between regions were more pronounced for the mtDNA than for the Y-chromosomal markers. A lower African ancestry was detected in AN than PC, for autosomal and both maternal and paternal lineage markers.