Non-random distribution of 17 Y-chromosome STR loci in different areas of Sardinia

Robledo, Renato; Mameli, A; Scudiero, C.M.; Vona, Giuseppe; Corrias, Laura; Bachis, Valeria; Culigioni, Claudia; Calò, Carla Maria

doi:10.1016/j.fsigen.2014.11.019

Cited by 7 publications

(4 citation statements)

References 30 publications

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“…However, signs of sub-structuring previously observed for standard YFiler® loci [8] were confirmed in communities where a long history of isolation, either for geographical (Desulo) or historical (Carloforte) reasons, is documented [9,11]. Therefore, it is important that Sardinian Y-haplotypes complementing Italian reference databases include microgeographically detailed data, in order to detect finer scale patterns of variation which may be relevant for the interpretation of Y-STR evidence.…”

Section: Mds Analysis Withinmentioning

confidence: 81%

“…Addition of new Y-STRs increased power of discrimination in Sardinia (h = 0.99997), compared to the standard 17 AmpFlSTR® YFiler® loci (h = 0.998) [8], but did not provide complete male individualization, with a single extended haplotype found in two subjects from different sampling sites in Central Sardinia. This was also the only 13 RM Y-STR haplotype match found in our Sardinian sample.…”

Section: Other Remarksmentioning

confidence: 91%

“…The present study represents a continuation of an earlier investigation of Y chromosomal variation in Sardinia [8]. Besides the addition of Y-SNPs and new Y-STRs recently introduced in forensics, as a further improvement to [8] the Southern Sardinia sample was expanded to include previously untested areas.…”

Section: Other Remarksmentioning

confidence: 92%

“…Because of their peculiar and, to some extent, unclear genetic features (in terms of homogeneity/heterogeneity), Sardinians can be considered an ideal population to test the impact of RM Y-STRs on haplotype match calculations. Hence, the aim of the present study was to investigate a Sardinian population sample, which had been previously partly typed for the standard AmpFlSTR® YFiler® loci [8], by means of an extended set of Y-STRs encompassing the YFiler® Plus loci and the seven RM Y-STRs not included in the YFiler® Plus kit.…”

Section: Populationmentioning

confidence: 99%

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Investigation of extended Y chromosome STR haplotypes in Sardinia

Lacerenza

Aneli

Gaetano

et al. 2017

Forensic Science International: Genetics

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Y-chromosomal variation of selected single nucleotide polymorphisms (SNPs) and 32 short tandem repeat (STR) loci was evaluated in Sardinia in three open population groups (Northern Sardinia, n=40; Central Sardinia, n=56; Southern Sardinia, n=91) and three isolates (Desulo, n=34; Benetutti, n=45, Carloforte, n=42). The tested Y-STRs consisted of Yfiler Plus markers and the seven rapidly mutating (RM) loci not included in the YFiler Plus kit (DYF399S1, DYF403S1ab, DYF404S1, DYS526ab, DYS547, DYS612, and DYS626). As expected, inclusion of additional Y-STR loci increased haplotype diversity (h), though complete differentiation of male lineages was impossible even by means of RM Y-STRs (h=0.99997). Analysis of molecular variance indicated that the three open populations were fairly homogeneous, whereas signs of genetic heterogeneity could be detected when the three isolates were also included in the analysis. Multidimensional scaling analysis showed that, even for extended haplotypes including RM Y-STR markers, Sardinians were clearly differentiated from populations of the Italian peninsula and Sicily. The only exception was represented by the Carloforte sample that, in accordance with its peculiar population history, clustered with Northern/Central Italian populations. The introduction of extended forensic Y-STR panels, including highly variable RM Y-STR markers, is expected to reduce the impact of population structure on haplotype frequency estimations. However, our results show that the availability of geographically detailed reference databases is still important for the assessment of the evidential value of a Y-haplotype match.

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Section: Mds Analysis Withinmentioning

confidence: 81%

Section: Other Remarksmentioning

confidence: 91%

Section: Other Remarksmentioning

confidence: 92%

Section: Populationmentioning

confidence: 99%

See 2 more Smart Citations

Investigation of extended Y chromosome STR haplotypes in Sardinia

Lacerenza

Aneli

Gaetano

et al. 2017

Forensic Science International: Genetics

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Allele and haplotype diversity of 12 X-STRs in Sardinia

Robino

Lacerenza

Aneli

et al. 2018

Forensic Science International: Genetics

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The analysis of clusters of tightly linked X-chromosome short tandem repeat (STR) markers can assist the interpretation of complex kinship cases. However, when linkage disequilibrium (LD) is present in the population of origin of tested individuals, haplotype rather than allele frequencies should be used in likelihood calculations. The diversity of twelve X-STRs arranged in four linkage groups (I: DXS10148-DXS10135-DXS8378; II: DXS7132-DXS10079-DXS10074; III: DXS10103-HPRTB-DXS10101; IV: DXS10146-DXS10134-DXS7423) was tested in a Sardinian population sample (n=516) including three open populations from the Northern, Central and Southern part of the island, and three isolates (Benetutti, Desulo, Carloforte). Evidence of LD was detected in Sardinia within each linkage group. Significant differences in haplotype and allele frequency distribution of X-STR markers was seen between isolates and open populations, which on the contrary appeared highly homogeneous. The percentage of Sardinian haplotypes previously unobserved in a similar dataset compiled for the Italian population was: 76.3% (linkage group I), 61.3% (linkage group II), 54.1% (linkage group III), 58.9% (linkage group IV). Significant pairwise genetic differences were seen between mainland Italy, the three Sardinian isolates, and the open population of Southern Sardinia. The study confirms the presence of high levels and complex patterns of LD along the X chromosome in Sardinia, and provides population-specific haplotype data for biostatistical evaluation in kinship testing.

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