Genetic data of 4 X-chromosomal short tandem repeats in a North of Portugal population

POPULATION: One hundred unrelated females and 100 unrelated males, autochthonous, healthy, from the North of Portugal.     

Evaluation of sensitivity and specificity of sibship determination in the Caucasian population of the Russian Federation using the 23 STR loci VeriFiler panel

We performed a simulation study to evaluate sensitivity and specificity of sibship determination in the Caucasian population of the Russian Federation using 23 autosomal STR loci included in the VeriFiler Express (Applied Biosystems) kit. Population genetic data were obtained from 1609 unrelated Caucasian individuals from different regions of the Russian Federation. Several scenarios were analyzed: half siblings duo vs unrelated; half siblings vs unrelated (mother(s) will be genotyped); full siblings duo vs half siblings; full siblings vs half siblings (mother will be genotyped); full siblings duo vs unrelated.     

Heterozygosity reduction in children whose parents are closely related

In this study, the impact of consanguineous marriage and inbreeding on heterozygosity was evaluated by comparing levels of heterozygosity in children of closely related parents with those of unrelated parents. Compared to the average expected heterozygosity, the average observed heterozygosity was lower in the children with first-cousin parents. This was not the case in the children with unrelated parents, where an increase in the average observed heterozygosity was noted. Differences in the average heterozygosity between parents-children also observed between related and unrelated parents. First-cousin parents had higher average heterozygosity than the children compared to the unrelated parents where the average heterozygosity was lower than the children. Further investigation with bigger sample size and different populations will provide better understanding, however this study showed that a careful approach should be taken when dealing with parentage testing involving closely related parents.     

共有基因数在同胞鉴定中应用的研究

目的　探索利用两个体间共有基因数目资料进行同胞关系鉴定的应用价值。方法　根据 80 7对同胞及无关个体的 13个STR基因座的分型结果 ,进行统计学计算。结果　同胞间及无关个体间共有基因数目均符合正态分布 ,分别得到同胞及无关个体关系的判别函数和后验概率 ,以及该方法的平均错判率。其中同胞组判别函数为 :L同胞 =-2 7 0 870 3 +3 2 0 2 3 2S (S为共有基因个数 ) ;无关个体组判别函数为 :L无关 =-7 495 63 +1 685 0 9S ,用上述判别函数进行同胞 /无关个体关系判别时的平均错判率为 0 0 2 65。结论　当共有基因数目大于 17或小于 8时 ,两个体为同胞或无关个体的后验概率分别大于 0 9980和 0 9994。此方法不失为同胞关系鉴定的可信度较高的方法。     

同卵双生子外周血DNA甲基化谱的差异

目的通过比较不同个体外周血DNA甲基化谱的差异,评估DNA甲基化在同卵双生子个体甄别中的应用价值。方法在知情同意基础上获得22对同卵双生子外周血样。抽提基因组DNA后进行重亚硫酸盐转化．采用Illuraina公司的人27k甲基化微珠芯片检测基因组27578个CpG位点的甲基化程度（启值）。依据常染色体CpG位点的序值,采用欧氏距离计算方法计算同卵双生子间以及同性男ll的无关个体间的表观遗传距离。比较同卵双生子对与无关个体对两组不同人群间的表观遗传距离差异。结果同卵双生子对人群以及无关个体对人群中的男性个体对与女性个体对的表观遗传距离差异均无统计学意义（P值分别为0．0695和0．4825）。同卵双生子对的表观遗传距离显著低于无关个体对人群（中位数：6．02νs7．20,P=0．0002）．但两组人群的表观遗传距离均显著大于4．00（P〈0．0001）。结论同卵双生子间的外周血DNA甲基化谱差异显著．DNA甲基化是进行同卵双生子个体甄别的有效生物学标记。     

常染色体STR遗传标记在同胞鉴定中的应用

目的 探讨常染色体STR遗传标记用于鉴定两个体同胞关系的可行性。方法 用Power Plex~(TM)16体系15个STR基因座检测150对同胞个体和150对无关个体,ITO法计算同胞关系指数(PI_(FS))与同胞关系概率(W_(FS)),并比较两组W_(FS)值及两个体间等位基因匹配情况的差异,对前者进行组间差异的x~2检验。结果 100对(66.67％)同胞个体的W_(FS)大于0.9995;无关个体W_(FS)均小于0.8,其中100对(66.67％)W_(FS)小于0.27。同胞个体两个体间等位基因全相同的基因座个数为1～10个不等,平均5.49个,无关个体0～5个不等,平均1.33个;等位基因全不同的基因座个数,同胞个体0～6个不等,平均1.66个,无关个体2～11个不等,平均6.57个;等位基因半相同的基因座个数,同胞个体3～13个不等,平均7.85个,而无关个体1～13个不等,平均7.11个。经x~2检验,同胞个体和无关个体间全相同和全不同的基因座数差异均有极显著意义(P<0.001),半相同的基因座数差异无显著意义(P>0.05)。结论 PowerPlex~(TM)16体系可用于鉴定同胞关系。当两个体全不同基因座个数大于或等于6个,或全相同基因座数为0时,提示为无关个体;当两个体全不同基因座个数小于或等于1个,或全相同基因座数大于或等于6个时,提示为同胞。     

STR data for the GenePrint PowerPlex 1.2 system loci from three United Arab Emirates populations

Allele frequencies for the eight STRs included in the GenePrint PowerPlex 1.2 kit were obtained from three population groups that are resident in the United Arab Emirates (UAE); 228 unrelated UAE individuals, 194 unrelated Indian individuals and 197 unrelated Pakistani individuals were analysed.     

Twelve-locus Y-STR haplotypes in the Flemish population

POPULATION: One hundred and thirteen unrelated Flemish men from Belgium.     

IBD法在堂表亲缘关系鉴定中的应用

目的 使用血缘一致性(identity by descent,IBD)法计算堂表亲缘关系的堂表关系指数(first cousin index,FCI)和累积堂表关系指数(combined first cousin index,CFCI),为IBD法鉴定两个个体是否具有堂表亲缘关系提供科学手段.方法 取124对堂表兄弟姐...     

Jewish population genetic data in 20 polymorphic loci

Frequency data of 20 polymorphisms (13 autosomal and 6 Y-chromosome STRs and the Alu-insertion YAP) were determined in a sample of 124 unrelated Jewish individuals from Ashkenazi, Sephardic, North African and Oriental origin. The a priori statistical power of the set of studied loci was highly discriminating (PD=1 in 2.393 E+15 individuals for autosomal STRs, and a probability of finding two unrelated males with the same haplotype of less than 0.01). Some significant population differences were registered between Jews and other Circummediterranean populations in Y-chromosome loci frequencies.     

Y-chromosomal STR haplotype in the Japanese population.

Allele and haplotype frequencies of seven Y-chromosome STR loci from samples of 108 unrelated Japanese males living in Aichi Prefecture.     

Genetic variation at eight STR loci in the Korean population

The frequency distributions of eight STR loci were surveyed in 510 unrelated individuals from the Korean population     

Analysis of Y-STR loci in a population sample from northeast China

POPULATION: A total of 141 unrelated Chinese Han male individuals living in Liaoning in northeast China.     

Population genetics of eleven STR loci in the State of Sergipe, Northeastern Brazil

POPULATION: Over 259 unrelated individuals from the State of Sergipe (Northeastern Brazil).     

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。     

Investigation of 74 microhaplotypes for kinship testing in US populations

Microhaplotypes are markers that consist of haplotype blocks of SNPs, which can be analyzed by massively parallel sequencing technologies. These allow determining the haplotype phase at every locus by clonal sequencing each DNA strand. MHs are polymorphic loci with same size alleles, no stutter, and lower mutation rate than STRs. They can provide the same power of discrimination of STR-kits, thus useful for mixture deconvolution, but more accurate ancestry prediction than STRs. In this study we investigated the potential of a recently developed 74plex-MH panel for kinship testing using the Familias software.Samples from families of four major US population groups were collected and genotyped using the 74plex-MH panel. MH allele frequency data from 347 individuals were imported into Familias software along with STR allele frequency data of 29 loci (NIST dataset) from 1036 individuals. Different family scenarios were tested and these included unrelated vs parent-child, unrelated vs full siblings, unrelated vs half siblings, unrelated vs cousin pairs. The prediction of the kinship relation for the four populations of interest was reported as Log10 of the likelihood ratio (LR).Overall, the panel of 74MHs and 29STRs showed similar performance in predicting the correct kinship scenarios tested. Correct prediction was reported for parent-child, full siblings, and half sibling scenarios, but not for the cousin pairs scenario. The panel of 74 MHs showed larger Log10LR values than the 29 STR-assay, thus demonstrating the effectiveness of this biomarker as a tool for kinship testing in addition to mixture deconvolution and ancestry prediction.     

Y-chromosome STR haplotype profiling in the Korean population

Allele and haplotype frequencies of seven Y-chromosome STR loci were determined from a sample of 330 unrelated males in the Korean population.     

Human Y-specific STR haplotypes in the Western Croatian population sample

Nine Y-chromosome STR loci (DYS19, DYS389I, DYS389II, DYS390, DYS391, DYS392, DYS393, DYS385 and YCAII) were analysed in a sample of 101 unrelated males from Croatia. Allelic frequencies and gene diversities for each Y-STR locus and haplotype diversity were determined. Ninety-one different haplotypes were obtained from 101 unrelated males and 84 haplotypes were unique. Three most common haplotypes were shared by 3% of the sample, one of them was not found in the online Y-STR Haplotype Reference Database (http://www.ystr.org/).     

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.     

On Mimicry and the Psychology of the Belief in a Just World: Imitating the Behaviors of Others Reduces the Blaming of Innocent Victims

Innocent victims of crime are often blamed for what happened to them. In this article, we examine the hypothesis that victim blaming can be significantly reduced when people mimic the behavior of the victim or even a person unrelated to the crime. Participants watched a person on a video after which we assessed the extent of their spontaneous mimicry reactions (Study 1) or participants were instructed to mimic or not to mimic the movements of this person (Study 2). Then, they were informed about a rape and criminal assault and judged the degree to which they thought the victims were responsible for the crime. One of the crimes happened to the same person as the person they previously did or did not mimic. The other crime happened to a person unrelated to the mimicry situation. Results of both studies revealed that previously mimicking the victim or an unrelated person reduced the degree to which victims were being blamed.