Population data at two short tandem repeat loci D2S1338 and D19S433 in the sample of multinational Bosnia and Herzegovina residents

POPULATION: We have analyzed the distribution of allele frequencies at two short tandem repeats loci (D2S1338 and D19S433) in a multinational sample of Bosnia and Herzegovina (B&H) residents. A total of 110 unrelated male and female individuals (Caucasians) from different regions of B&H were sampled for the analysis. We ensured that the sample reflected approximate proportional participation of the three main ethnic groups in the population of B&H (Bosniacs-Muslim [45%], Serbs [34%], Croats [21%]).     

A D19S433 primer binding site mutation and the frequency in Japanese of the silent allele it causes

Short tandem repeat studies are powerful tools for parentage analysis and for identification of missing persons, victims of murder, and victims of mass fatalities when reference samples are unavailable. The primer in the Identifiler kit failed to amplify an allele at the D19S433 locus, producing a silent ("null") allele. The causal mutation is a base change (G>A) 32 nucleotides downstream from the 3' end of the AAGG repeats. The silent alleles are problematical in parentage analysis because when transmitted, they can cause a parent-child inconsistency that is unrelated to Mendelian genetics. The inconsistency is sometimes termed an "apparent opposite homozygosity" and it produces false evidence of nonparentage. Alternative primers were designed to amplify the D19S433 locus alleles and they detect the silent allele. Frequencies of the (no longer) silent allele were determined to be 0.0114 in 176 people from Shizuoka (Honshu) and 0.0128 in 156 people from Okinawa.     

人类D19S40基因座在不同人种中的遗传多态性研究

采用ＰＣＲ技术分析中国汉族、德国人、斯洛伐克人和美国黑人群体Ｄ１９Ｓ４００基因座的遗传多态性及世界三大人种之间的差异。四个群体共调查了６２０人,发现了１１个等位基因,观察到４７种基因型。各群体观察杂合度为：０．７８～０．８８,个人识别机率为：０．９３８５０～０．９６６４。四个群体基因型频率分布符合Ｈａｒｄｙ－Ｗｅｉｎｂｅｒｇ平衡（Ｐ＞０．０５）,三大人种（蒙古人种、高加索人种、美国黑人）之间Ｄ１９Ｓ４００基因座等位基因频率分布存在极显著差异（Ｐ＜０．０１）。结果显示Ｄ１９Ｓ４００基因座在群体遗传学研究和法医学个人识别中有较高应用价值     

Unusual FGA and D19S433 off-ladder alleles and other allelic variants at the STR loci D8S1132, vWA, D18S51 and ACTBP2 (SE33)

A very short FGA allele *14 and a long D19S433 allele *19.2 were detected and sequenced, as well as the new D8S1132 alleles *12.1, *14 and *15.1. Further new sequence data (vWA allele *18.3, D18S51 allele *11.2, SE33 alleles *24.2, *32, *34 and *37, including the rare variant allele *13.2) are described.     

华东地区汉族人群D2S1399和D5S2500基因座的遗传多态性研究

目的研究D2S1399和D5S2500基因座在中国华东地区汉族群体遗传多态性。方法应用PCR、聚丙烯酰胺垂直电泳及银染技术检测D2S1399和D5S2500基因座的遗传多态性。结果D2S1399和D5S2500基因座在中国华东汉族群体分别检出11个和9个等位基因,其观察杂合度(Ho)分别为0.745和0.807,多态信息含量(PIC)分别为0.850和0.750,个体识别能力(DP)分别为0.958和0.917,非父排除率(PE)分别为0.554和0.643。结论D2S1399和D5S2500两个基因座是高度多态性STR基因座,在法医学中有重要应用价值。     

D5S818 Typing Discrepancy Between PowerPlex® Fusion and Other STR Kits Including GlobalFiler® Caused by a One‐base Deletion in 31 Nucleotides Upstream of the Repeat Region

Short tandem repeat (STR) typing is widely used in forensic investigation. When the same DNA sample is analyzed with different STR typing kits, a typing discrepancy is occasionally observed. In this study, we examined the cause of a typing discrepancy in a sample at D5S818 locus. This sample was designated as 10, 12 using Identifiler^®, Identifiler^® Plus, GlobalFiler^®, PowerPlex^® 16HS, and PowerPlex^® 18D, but as 9.3, 12 using PowerPlex^® Fusion. Sequencing results indicated that the shorter allele in the sample had a deletion (U31Tdel) at 31 nucleotides upstream of the repeat region (AGAT)₁₀. This deletion was located in the binding site of the published D5S818 forward primer in PowerPlex^® 16 and was only 9 and 11 nucleotides downstream of our estimated 5′ end position of D5S818 forward primer in GlobalFiler^® and PowerPlex^® 18D, respectively. We also examined the effect of primer length on the heterozygous peak balance in this sample.     

AMPFlSTR Identifiler STR allele frequencies in Tanzania, Africa

POPULATION:  Identifiler—Employees and students of Muhimibili University College of Health Sciences in Dar es Salaam representing 19 widely distributed administrative districts and 42 tribes within the country.     

Genetic analysis of 15 STR loci of Chinese Ewenki ethnic population

POPULATION: Almost all the Ewenki are found in HulunBuir Ewenki Autonomous Banner, Inner Mongolia province of China. Some Ewenki are nomads; others are farmers or farmer-hunters. A small number of them are hunters. Its national characters and languages belong to the Altai phylum.