Over the last decade, the analysis of Y-chromosomal STRs has emerged as a powerful tool for paternity testing and forensic casework. More recently, single multiplex PCR assays including new Y-STRs, which complement those comprised in the Y Haplotype Reference Database (YHRD) minimal haplotype (minHt) and the Scientific Working Group on DNA Analysis Methods (SWGDAM) recommended haplotype, have been validated for forensic casework and made commercially available. However, due to the peculiar pattern of inheritance of the Y chromosome, a precise knowledge of the distribution of these extended haplotypes in human populations is required in order to obtain reliable frequency estimates for quantitative assessment of observed matches in kinship analysis and forensic studies. Following a large flow of immigrants from neighbouring Albania during the 1990’s, both paternity and criminal cases involving Albanian individuals have lately became a common occurrence in Italian forensic laboratories. Because of past political isolation, population genetics data from this area of Europe have been historically scarce. As a consequence, there is an almost complete lack of information as to the distribution of DNA polymorphisms of forensic interest in Albanians. Bearing this in mind, a population sample of 108 unrelated first generation male Albanian immigrants residing in Italy was typed using the AmpFlSTR Yfiler PCR amplification kit (Applied Biosystems). This multiplex PCR system includes, apart from the minHt loci, the markers DYS456, DYS458, DYS439, DYS635, Y GATA H4, DYS437, DYS438 and DYS448. A total of 95 different 17-loci Y-STR haplotypes were observed in the Albanian population sample and 86 of them were unique. The commonest haplotype was shared by five individuals. A haplotype diversity of 0.996 and a discrimination capacity of 0.880 were calculated. Among the additional markers, gene diversity ranged between 0.743 (DYS458) and 0.549 (DYS439). Significant differences in allelic distribution and gene diversity were observed within single supplementary Y-STR markers when comparing groups of individuals belonging to distinct Y-SNP haplogroups.
Y-STR typing of an Albanian population sample using a 17-loci multiplex PCR system
ROBINO, Carlo;INTURRI, Serena;GINO, Sarah;DI GAETANO, Cornelia;CROBU, FRANCESCA;PIAZZA, Alberto;TORRE, Carlo
2006-01-01
Abstract
Over the last decade, the analysis of Y-chromosomal STRs has emerged as a powerful tool for paternity testing and forensic casework. More recently, single multiplex PCR assays including new Y-STRs, which complement those comprised in the Y Haplotype Reference Database (YHRD) minimal haplotype (minHt) and the Scientific Working Group on DNA Analysis Methods (SWGDAM) recommended haplotype, have been validated for forensic casework and made commercially available. However, due to the peculiar pattern of inheritance of the Y chromosome, a precise knowledge of the distribution of these extended haplotypes in human populations is required in order to obtain reliable frequency estimates for quantitative assessment of observed matches in kinship analysis and forensic studies. Following a large flow of immigrants from neighbouring Albania during the 1990’s, both paternity and criminal cases involving Albanian individuals have lately became a common occurrence in Italian forensic laboratories. Because of past political isolation, population genetics data from this area of Europe have been historically scarce. As a consequence, there is an almost complete lack of information as to the distribution of DNA polymorphisms of forensic interest in Albanians. Bearing this in mind, a population sample of 108 unrelated first generation male Albanian immigrants residing in Italy was typed using the AmpFlSTR Yfiler PCR amplification kit (Applied Biosystems). This multiplex PCR system includes, apart from the minHt loci, the markers DYS456, DYS458, DYS439, DYS635, Y GATA H4, DYS437, DYS438 and DYS448. A total of 95 different 17-loci Y-STR haplotypes were observed in the Albanian population sample and 86 of them were unique. The commonest haplotype was shared by five individuals. A haplotype diversity of 0.996 and a discrimination capacity of 0.880 were calculated. Among the additional markers, gene diversity ranged between 0.743 (DYS458) and 0.549 (DYS439). Significant differences in allelic distribution and gene diversity were observed within single supplementary Y-STR markers when comparing groups of individuals belonging to distinct Y-SNP haplogroups.
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