Y-chromosome STR haplotypes from a Western Mediterranean population sample

Nine Y-chromosome STRs were investigated in a male population sample from the Western Mediterranean region of Valencia (Eastern Spain). Complete nine Y-chromosomal STRs haplotypes were obtained in 140 individuals, among which 113 different haplotypes were observed. The most common haplotype was shared by 5% of the sample, while 99 haplotypes were unique. The gene diversity was 0.9892 and the discrimination capacity was 0.8071. Significant population differences were observed with respect to other Iberian populations, such as the Basques and Northern Portugueses.     

Mitochondrial diversity of a northeast German population sample

Mitochondrial DNA sequences of the hypervariable regions HV I and HV II were analyzed in 300 unrelated individuals born and living in the northeast corner of Germany (Western Pomerania) to generate a database for forensic identification purposes in this region. Sequence polymorphism were detected using PCR and direct sequencing analysis. A total of 242 different haplotypes were found as determined by 147 variable positions. The most frequent haplotype (263G, 315.1C) was found in 10 individuals and is also the most common sequence in Europe. Three other haplotypes were shared by 5 individuals, 2 sequences by 4, 8 haplotypes by 3, 15 sequences by 2 persons, and 213 sequences were unique. The genetic diversity was estimated to be 0.99 and the probability of two random individuals showing identical mitochondrial DNA (mtDNA) haplotypes is 0.6%. A comparison with other studies from Germany showed only little differences in the distribution of haplogroups. Nevertheless, one frequent haplotype in northeast Germany (five unrelated individuals) could only rarely be found in other German and European regions. Our results may indicate that despite a high admixture proportion in the German population some regions could demonstrate certain characteristic features.     

Population genetics of Y-chromosome STRs in a population of Podlasie, Northeastern Poland

Haplotype and allele frequencies for the 12 Y-STRs were determined in a population sample of 186 Polish males. Five of the haplotypes were encountered in duplicate, while 176 haplotypes were unique. The overall gene diversity was 0.9973. This database study provides an essential precondition for applying Y-chromosomal STRs estimates in forensic identification of male DNA and tracing of paternal lineages.     

Y-chromosomal haplotypes for the AmpFlSTR Yfiler PCR Amplification Kit in a population sample from Central Poland

Haplotype and allele frequencies for 17 Y-STR loci (DYS456, DYS389I/II, DYS390, DYS458, DYS19, DYS385 I/II, Y GATA H4, DYS437, DYS438, DYS448, DYS393, DYS391, DYS439, Y GATA C4, DYS392) were determined in 255 unrelated males from central Poland using AmpFlSTR Yfiler PCR Amplification Kit. Two hundred and fifty-two different haplotypes were observed. The most common three haplotypes were shared by 0.8% of the sample, respectively. Two hundred and forty-nine haplotypes were encountered only once.     

Mitochondrial DNA population data of HVS-I and HVS-II sequences from a northeast German sample

Mitochondrial DNA sequences of the control region's two hypervariable regions HVS-I and HVS-II were determined for 213 unrelated west Eurasian individuals from northeast Germany (Mecklenburg). A total of 174 different mtDNA haplotypes were found, 25 of which were shared by more than 1 individual. The most frequent haplotypes were 263G-309.1C-315.1C, found in seven individuals, 263G-309.1C-309.2C-315.1C, found in six individuals and 263G-315.1C, found in five individuals. These sequences are also the most common haplotypes in other published European data sets. The sequence polymorphisms consisting of 150 polymorphic nucleotide positions were compared with other European databases. The genetic diversity and random match probability were calculated. Our results corroborate certain features which are characteristic for west Eurasian mtDNA population samples.     

Population genetics of Y-chromosome STRs in a population sample of the Lithuanian minority residing in the northeastern Poland

Haplotype and allele frequencies for the 12 Y-STRs were determined in a population sample of 124 unrelated males--members of the Lithuanian minority residing in the northeastern Poland. Three of the haplotypes were encountered in duplicate, while 118 haplotypes were unique. The overall gene diversity was 0.9952. Analysis of molecular variance revealed that the Lithuanian minority can be distinguished from the autochthonous Poles, although these two populations are very close to each other. This database study provides an essential precondition for applying Y-chromosomal STRs estimates in forensic identification of male DNA and tracing of paternal lineages.     

Y-chromosome STR-haplotype typing in El Salvador

Eight Y-chromosome STRs were investigated in a male population sample from El Salvador. Complete Y-chromosomal STRs haplotypes were obtained in 121 individuals, among which 107 different haplotypes were observed. The two most common haplotypes were shared by approximately 4% of the sample, while 100 haplotypes were unique. The gene diversity was 0.9883 and the discrimination capacity was 0.8926. The combined Y-chromosome STR polymorphisms provide a powerful discrimination tool for routine forensic applications.     

Analysis of 16 Y STR loci in the Finnish population reveals a local reduction in the diversity of male lineages

We analysed samples of 400 Finnish males using nine Y-chromosomal short tandem repeat (STR) loci (minimal haplotype); for 200 of these subjects an additional seven Y-chromosomal STR loci were used. The geographical distribution of the observed haplotypes was determined from 200 individuals of known paternal origin within Finland. The observed number of alleles varied from 2 to 13 alleles per locus. A total of 146 minimal haplotypes were identified in our population sample. Interestingly, 90 (22.5%) individuals shared an identical haplotype. This haplotype was extremely frequent in the northern and eastern subpopulations of Savo, Pohjanmaa and Karjala (53, 42 and 37%, respectively). With the seven additional loci analysed in the sample of 200 individuals, 120 haplotypes were identified, and individuals sharing the most common haplotype decreased to 13.0%. However, in comparison to other European populations, the Finnish population showed decreased genetic diversity (GD) when the number of different minimal haplotypes in the population was divided by the sample size (36.5% in Finns versus 83.7% on average). Our results strongly support the earlier hypothesis of individual isolated Y-chromosomal lineages and population substructuring in Finland. For paternity testing, power of exclusion was 92% using minimal haplotype data, but including the seven additional loci this value increased to 97%.     

Y-chromosome variation in a Norwegian population sample

Y-chromosome DNA profiles are promising tools in population genetics and forensic science. Here we present DNA profiles of 300 unrelated Y-chromosomes of Norwegian origin. The profile is composed of eight short tandem repeats (STRs) and one single nucleotide polymorphism (SNP). In more than 2/3 of the haplotypes the modular structure in the 5' end of the minisatellite locus DYF155S1 was revealed by minisatellite variant repeat PCR (MVR-PCR) These haplotypes were also typed for deletions of fragment 50f2C (DYF155S2). Allele distribution and paternity exclusion parameters are given for each marker. The degree of haplotype diversity and its implication for statistics are evaluated. In the 300 samples 177 different haplotypes were encountered, of which 137 were observed once only. Analysis showed that the main source of variation is within the population. The Fst values were less than 0.015 in general. Haplotype grouping by the SNP demonstrated two haplogroups (Tat/T and Tat/C). Haplogroup Tat/C--found in 5.7% of the present material - is the same haplogroup as encountered in 60% of Finnish males [Am. J. Hum. Genet. 62 (1998) 1171]. Mutation analysis in 150 father/son pairs (a total of 1200 meiotic events) revealed an average mutation frequency of 0.0042 (95% CI 0.0014-0.0097).     

Evaluation of 12 Y-chromosome STR loci in Western Mediterranean populations

With the aim to establish a Y-STR haplotype database, a total of 554 males from seven Western Mediterranean populations were genotyped for the 12 Y-chromosome STR loci (minimal haplotype extended by loci DYS437, DYS438 and DYS439) included in the Powerplex Y System (Promega).Among the 554 males analyzed, 443 different haplotypes were obtained, of which 372 were unique. The other haplotypes were shared by two to seven men. The two most frequent haplotypes were both found in seven Ibiza men. A remarkable haplotype diversity of 0.9988 ± 0.0002 was observed.The haplotypes were searched against the Y-haplotype reference database (YHRD) and 149 haplotypes matched to at least one YHRD sample.     

Allele frequencies and population data for 17 Y-chromosome STR loci in a Serbian population sample from Vojvodina province

Seventeen Y-chromosomal STR (short tandem repeat) loci were analyzed in a group of 185 healthy unrelated male individuals (n=185) from the population of Serbian province of Vojvodina. After minimal haplotype STR loci analysis we observed 129 different haplotypes. The most frequent haplotype was found in 13 copies, and total haplotype diversity was 99.11%. After analysis of additional eight Y-STR loci (DYS437, DYS438, DYS439, DYS448, DYS456, DYS458, DYS635 and YGATAH4) there were 176 different haplotypes observed, out of which 168 appeared in single copies, and 7 haplotypes appeared twice. The most frequent haplotype was found in three copies. The haplotype diversity (99.94%) and discrimination capacity (95.13%) were calculated. Comparisons were made with previously published haplotype data on neighbouring population samples and significant differences were demonstrated at DYS19, DYS389II and DYS393 loci. Pairwise comparison of populations revealed that our sample was significantly different only from Hungarian sample (RST=23.98%, p=0.0091).     

Y-chromosomal STR haplotypes in a Gypsy population from Portugal

We analyzed 17 Y-chromosomal STR loci in a population sample of 126 unrelated Portuguese Gypsies. Fifty three different haplotypes were found, three represented with considerable high frequencies (≥8.7%). The percentage of unique haplotypes (71.2%) was rather low as well as haplotype diversity (94.37%). In the comparison with available Portuguese population data and with those from other Gypsy and general population samples from Bulgaria, Lithuania and Spain, our sample showed significant differences in comparison with the general population data from Portugal, Spain and Bulgaria. Significant differences were observed with Bulgarian Gypsies, but not with the Spanish or Lithuanian groups. The Gypsy populations from Portugal, Spain and Bulgaria were found to be more closely related to each other than with the general population from their own countries.     

Y-chromosomal STR haplotypes in a population from the Amazon region, Brazil

Haplotype and allele frequencies of the nine Y-STR (DYS19, DYS389 I, DYS389 II, DYS390, DYS391, DYS392, DYS393, DYS385 I/II) were determined in a population sample of 200 unrelated males from Belém, Brazil. The most common haplotypes are shared by 1.5% of the sample, while 186 haplotypes are unique. The haplotype diversity is 0.9995+/-0.0006. The data obtained were compared to those of other Brazilian populations. AMOVA indicates that 99.91% of all the haplotypical variation is found within geopolitical regions and only 0.09% is found among regions.     

中国汉族及日本群体7个Y—STR位点及单倍型的遗传多态性和群体差异

目的调查Y染色体7个STR位点及单倍型的遗传多态性并分析其群体差别。方法应用PCR、变性聚丙烯酰胺凝胶电泳结合银染显色分型技术,检测45例中国汉族及59例日本男性DNA样品。结果在DYS393、DYS389Ⅰ、DYS19、DYS390、DYS389Ⅱ、DYS392等6个位点中共检出33个等位基因,DYS385位点检出39个等位基因组,其频率分布在0.0169～0.6444之间,DP值分布在0.5406～0.9579之间,以DYS385位点最高。7个位点数据综合比较,二组群体间在遗传学上存在显著性差异P<0.05。由7个位点组成的单倍型有95种,中国汉族有41种,DP值为0.9960,日本群体有54种,DP值为0.9965,2群体间未发现相同的单倍型。结论上述7个STR位点属于高鉴别能力位点,单倍型具有很高的遗传多态性并显示出明显的民族特征。     

Forensic utility of the mitochondrial hypervariable region 1 of domestic dogs, in conjunction with breed and geographic information

The 608-bp hypervariable region 1 (HV1) sequences from 36 local dogs were analyzed to characterize the population genetic structure of canid mitochondrial DNA (mtDNA). Sixteen haplotypes were identified. A 417-bp segment of this sequence was compared with GenBank sequences from a geographically representative sample of 201 dogs, two coyotes, and two wolves. Sixty-six haplotypes were identified including 62 found only in domestic dogs. Fourteen of these correspond to the 16 local haplotypes and were among the most frequent haplotypes. The local sample was judged to be representative of the much broader geographic sample. No correlation was observed between local haplotypes and the owner's characterization of dog breed. A 60-bp variation "hotspot" within the canid HV1 was identified as a potentially valuable molecular tool, particularly for assaying limited or degraded DNA samples.     

Searching for the origin of Romanies: Slovakian Romani, Jats of Haryana and Jat Sikhs Y-STR data in comparison with different Romani populations

Haplotype frequencies for 11 Y-STR markers (DYS19, DYS389I, DYS389II, DYS390, DYS391, DYS392, DYS393, DYS385, DYS437, DYS438 and DYS439) in a Romani population (n=63) from Slovakia, Jats of Haryana (n=84) and Jat Sikhs (n=80) from India were determined. The Slovakian Romani, the Haryana and Sikh populations were endogamous based on their unique haplotype ratio and haplotype diversity values, although the Sikh population appeared to be more diverse. AMOVA revealed non-significant differences between the Romanies and significant differences with non-Romani populations. The Macedonian Romani population differed from all Romani populations examined. Frequent haplotypes observed in Romani populations were sporadic in northwest Indian populations. Thirteen out of 316 populations worldwide were found to share the six most frequent haplotypes of the Slovakian Romanies when the screening conditions were narrowed based on the population size to be over 40, the occurrence of the haplotypes was more than one and the sum frequencies of the most frequent haplotypes was at least 0.02. The most common haplotypes were also observed in other Romani groups. When searching with two Indian (Malbar and Malaysian Indian) most frequent haplotypes under the same conditions matches could be detected in all Romani populations except for the Macedonian Romanies. The search with the Jat Sikhs and Jats of Haryana most frequent haplotypes resulted no matches in Romani populations.     

Species identification of Kachuga tecta using the cytochrome b gene

A DNA technique has been established for the identification to species level of tortoises. The test on the shell of the animal was used to identify samples from the species Kachuga tecta. A total of 100 tortoise shell specimens collected from the National Council of Agriculture (COA), Taiwan, were used in this study. Primer pairs were designed to amplify partial DNA fragments of cytochrome b within the mitochondrial genome. The DNA data showed that among the 100 samples, there were four distinct haplotype DNA sequences, within which there were a total of 90 variable sites. Between haplotypes I and II, there was only 1 nucleotide difference at position 228. Between haplotypes I and III, 65 nucleotide differences were observed; haplotypes I and IV, 62 nucleotide differences; and haplotypes III and IV, 56 nucleotide differences were observed. There were 66 and 63 nucleotide differences between haplotypes II and III and haplotypes II and IV respectively. All four haplotypes were compared with the DNA sequences held at the GenBank and EMBL databases. The most similar species were K. tecta (haplotype I and II), Morenia ocellata (haplotype III) and Geoclemys hamiltonii (haplotype IV), and their respective mtDNA similarities were 99.5%, 99.3%, 89.9% and 99.5%. However, as haplotype III was only 89.9% homologous with M. ocellata, it would seem that this haplotype shows only a limited relationship with a similar species registered currently in these databases. The method established by this study is an additional method for the identification of samples protected under Convention International Trade in Endangered Species (CITES) and will improve the work for the preservation of the endangered species.     

Y-chromosome STR haplotypes in Córdoba (Argentina)

Eight Y-chromosome STRs were investigated in a male population sample from Córdoba region (Argentina). Complete Y-chromosomal STRs haplotypes were obtained in 100 individuals, among which 91 different haplotypes were observed. The most common haplotype was shared by 4% of the sample, while 86 haplotypes were unique. The gene diversity was 0.9875 and the discrimination capacity was 0.8600. The combined polymorphism provides a powerful discrimination tool for routine forensic applications.     

Y chromosome STR polymorphisms in a Serbian population sample

Eight Y chromosome short tandem repeat (STR) polymorphisms (DYS19, DYS385, DYS389I, DYS389II, DYS390, DYS391, DYS392, DYS393) were analyzed in the sample of 114 unrelated males living in Serbia. A general STR allelic frequency pattern in Serbians corresponds to other European populations with the exception of loci DYS19, DYS389II and DYS385. Out of ninety identified haplotypes, 74 (64.91%) appeared in single copies. The most frequent haplotypes (DYS19-DYS385-DYS389I-DYS389II-DYS390-DYS391-DYS392-DYS393) 16-14/15-13-31-24-11-11-13 and 15-15/19-12-28-23-10-12-12 were found in four copies (3.51%). Total haplotype diversity was 0.9947+/-0.0021.     

用Y-STR单倍型推断男性个体来源的分析

目的 利用17个Y-STR单倍型数据,推断分析浙江绍兴地区男性个体来源,为Y-STR数据库的建设与应用提供依据.方法 采集绍兴地区6县(市)区,104个镇(乡),1240个村的138个姓氏家族的7384份男性个体血样.采用YfilerTM复合扩增试剂盒进行17个Y-STR分型,所得数据进行县(市/区)/镇(乡/街道)/村/姓氏的组合和县(市/区)/镇(乡/街道)/村/姓氏/单倍型组合分布情况统计分析.结果 在7384份男性样本中,获得2 486种县(市/区)/镇(乡/街道)/村/姓氏组合,4957种县(市/区)/镇(乡/街道)/村/姓氏/单倍型组合,3149种Y-STR单倍型.其单倍型出现的次数从1至52次不等,其中仅出现1次的有2 471种(78.47％).对出现频率为17～ 52次的单倍型数据进行姓氏分析,发现平均有71.0％ (42.9％ ～87.5％)的人员来自同一姓氏,且在地域上多数为相邻镇或村的同姓人员.结论 利用Yfiler系统的17个Y-STR基因座单倍型数据,可以推断浙江绍兴地区男性个体的地域或姓氏来源.