Amplification of Y-chromosomal STRs from ancient skeletal material

Schultes, Tobias; Hummel, Susanne; Herrmann, Bernd

doi:10.1007/s004390050930

Cited by 42 publications

(22 citation statements)

References 5 publications

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“…Because of environmental destruction and the scarcity of forensic samples, incomplete Y-STR profiles are often obtained from trace evidence material or mixed male/female samples in forensic casework. The DYS19, DYS389II, DYS448, and DYS635 loci have been reported to be among the most frequent noninformative loci, followed by DYS385a/b, DYS390, DYS392, DYS437, and DYS438 in the 17 Y-STRs system [6,14,15]. Loss of the signals will decrease the discrimination capacity.…”

Section: Introductionmentioning

confidence: 95%

Seventeen Y-chromosomal short tandem repeat haplotypes in seven groups of population living in Taiwan

Hwa

Tseng

Ko³

et al. 2010

Int J Legal Med

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The analysis of Y-chromosome short tandem repeat (Y-STR) loci is a powerful tool in forensic casework. The aim of this study was to present the 17 Y-STR loci haplotype distributions of groups of population living in Taiwan and to demonstrate genetic distances between the groups as well as multidimensional scaling plot based on Y-STR genotype data. Five hundred and fifteen DNA samples from unrelated males of seven groups of population, including Taiwanese Han, two groups of indigenous Taiwanese of Taiwan Island, Tao, mainland Chinese, Filipinos, and a group of people with European, Near Eastern, or South Asian ancestry, were analyzed using a commercial kit that co-amplifies 17 Y-STRs. A total of 471 different haplotypes with 440 unique haplotypes were identified. The overall haplotype diversity was 0.9995 +/- 0.0002. High haplotype diversity was observed in six groups of population, except the Tao. These Y-STRs revealed a low discrimination capacity in the Tao population (36.84%), which should be considered in forensic practice. The multidimensional scaling plot of these seven groups of population constructed based on the genetic distances according to 17 Y-STR loci presented a clear patrilineal genetic substructure in the area. Partial Y-STRs profiling reduced the discrimination capacity in most groups of population and distorted the multidimensional scaling plot.

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Section: Introductionmentioning

confidence: 95%

Seventeen Y-chromosomal short tandem repeat haplotypes in seven groups of population living in Taiwan

Hwa

Tseng

Ko³

et al. 2010

Int J Legal Med

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“…Previously, it was hypothesized that a strong selection advantage may have been conferred to carriers of the nonfunctional CCR5 allele, which drove its frequency rapidly upward in ancestral Caucasian populations. Resistance to an Methods: The skeletons of the burial sites of Goslar, Alia and the Lichtenstein cave had previously been genetically analyzed in studies that aimed at the reconstruction of kinship on an individual and population level 13,[19][20][21] or that focused on the DF508 mutation at the cystic fibrosis locus. 22 In all cases, the DNA was preserved in excellent condition.…”

Section: Ccr5-d32mentioning

confidence: 99%

Detection of the CCR5-Δ32 HIV resistance gene in Bronze Age skeletons

et al. 2005

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A mutant allele of the chemokine receptor CCR5 gene (CCR5-D32), which confers resistance to HIV-1 infection, is believed to have originated from a single mutation event in historic times, and rapidly expanded in Caucasian populations, owing to an unknown selective advantage. Among other candidates, the plague bacillus Yersinia pestis was implicated as a potential source of strong selective pressure on European populations during medieval times. Here, we report amplifications of the CCR5-D32 DNA sequence from up to 2900-year-old skeletal remains from different burial sites in central Germany and southern Italy. Furthermore, the allele frequency of CCR5-D32 in victims of the 14th century plague pandemic in Lü beck/ northern Germany was not different from a historic control group. Our findings indicate that this mutation was prevalent already among prehistoric Europeans. The results also argue against the possibility of plague representing a major selective force that caused rapid increase in CCR5-D32 gene frequencies within these populations. Genes and Immunity (2005) The human chemokine receptor CCR5 serves, together with CD4, as the principal coreceptor for macrophagetropic (R5) human immunodeficiency virus type 1 (HIV-1) strains. 1 A large number of genetic variants in the coding or the promotor region of the CCR5 gene have been identified in different ethnic groups. 2,3 Several of these naturally occurring mutations result in alterations of the receptor's amino-acid sequence and affect the ability of CCR5 to act as a chemokine receptor or HIV coreceptor. 4,5 The finding that nonfunctional receptor alleles are relatively frequent among different human populations has led to the hypothesis that a selective advantage might be associated with the loss of CCR5 function.The CCR5-D32 mutant, which is characterized by a 32-bp deletion in the gene segment encoding the second extracellular loop of the receptor, provides an instructive example of how host genetic variation may contribute to HIV-related pathology. Individuals homozygous for CCR5-D32 are almost completely protected against HIV-1 infection due to the absence of functional receptors from the cell surface. 6-8 Population surveys revealed a north to south gradient of CCR5-D32 allele frequencies of 16 to 3% across Europe and its absence in individuals of nonCaucasian descent. 9-11 Determination of the intrahaplotypic variation of flanking microsatellite loci in strong linkage disequilibrium with CCR5-D32 allowed calculation of the approximate age of the CCR5-D32 containing ancestral haplotype. Two different studies that analyzed separate microsatellite markers concluded that the CCR5-D32 allele originated from a single mutation event that took place in historic times approximately 700 years (95% confidence interval (CI): 275-1800) 11 to 3500 years (CI 400-13 000) 10 ago in northeastern Europe. Both studies assumed a heterozygote advantage of the CCR5-D32 mutant. The European locale and timing of the bubonic plague of the 14th century coincide with the calculat...

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“…To accommodate the primer pair to the usage on aDNA, the reverse primer was modified so that the generated products were 94 bp shorter. 18 The loci were coamplified in a 50 µl reaction volume containing 50 mM KCl, 10 mM Tris-HCl, 2.0 mM MgCl 2 , 175 µM dNTPs, 0.1 µM of each primer of DYS19, DYS390 and DYS389, 6 µl aDNA extract, 2.5 U AmpliTaqGold™ polymerase. PCR cycling conditions were as follows: 55 cycles of 94°C 1 min, 51°C 1 min, 72°C 1 min.…”

Section: Amplification Of the Y-chromosomal Str-locimentioning

confidence: 99%