Development of an Italian RM Y-STR haplotype database: Results of the 2013 GEFI collaborative exercise

Gregorio Seidita, Di Gaetano, Nutini, Casarino, Previderè, Turrina, Ponzano, Resta, Piccinini, Robino, Barbaro, Ferri, Onofri, Verzeletti, Ballantyne, Carnevali, Scarnicci, Kayser, Piglionica, RalfPasino, Sorçaburu-Cigliero, Matullo, Fabbri, Gonzalez, Bini, De Marchi, Giardina

    Risultato della ricerca: Article

    25 Citazioni (Scopus)

    Abstract

    Recently introduced rapidly mutating Y-chromosomal short tandem repeat (RM Y-STR) loci, displaying a multiple-fold higher mutation rate relative to any other Y-STRs, including those conventionally used in forensic casework, have been demonstrated to improve the resolution of male lineage differentiation and to allow male relative separation usually impossible with standard Y-STRs. However, large and geographically-detailed frequency haplotype databases are required to estimate the statistical weight of RM Y-STR haplotype matches if observed in forensic casework. With this in mind, the Italian Working Group (GEFI) of the International Society for Forensic Genetics launched a collaborative exercise aimed at generating an Italian quality controlled forensic RM Y-STR haplotype database. Overall 1509 male individuals from 13 regional populations covering northern, central and southern areas of the Italian peninsula plus Sicily were collected, including both "rural" and "urban" samples classified according to population density in the sampling area. A subset of individuals was additionally genotyped for Y-STR loci included in the Yfiler and PowerPlex Y23 (PPY23) systems (75% and 62%, respectively), allowing the comparison of RM and conventional Y-STRs. Considering the whole set of 13 RM Y-STRs, 1501 unique haplotypes were observed among the 1509 sampled Italian men with a haplotype diversity of 0.999996, largely superior to Yfiler and PPY23 with 0.999914 and 0.999950, respectively. AMOVA indicated that 99.996% of the haplotype variation was within populations, confirming that genetic-geographic structure is almost undetected by RM Y-STRs. Haplotype sharing among regional Italian populations was not observed at all with the complete set of 13 RM Y-STRs. Haplotype sharing within Italian populations was very rare (0.27% non-unique haplotypes), and lower in urban (0.22%) than rural (0.29%) areas. Additionally, 422 father-son pairs were investigated, and 20.1% of them could be discriminated by the whole set of 13 RM Y-STRs, which was very close to the theoretically expected estimate of 19.5% given the mutation rates of the markers used. Results obtained from a high-coverage Italian haplotype dataset confirm on the regional scale the exceptional ability of RM Y-STRs to resolve male lineages previously observed globally, and attest the unsurpassed value of RM Y-STRs for male-relative differentiation purposes.
    Lingua originaleEnglish
    pagine (da-a)56-63
    Numero di pagine8
    RivistaFORENSIC SCIENCE INTERNATIONAL: GENETICS
    Volume15
    Stato di pubblicazionePublished - 2015

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    Microsatellite Repeats
    Haplotypes
    Databases
    Exercise
    Mutation Rate
    Forensic Genetics
    Sicily
    Population
    Aptitude
    Genetic Structures
    Population Genetics
    Population Density
    Nuclear Family
    Fathers
    Weights and Measures

    All Science Journal Classification (ASJC) codes

    • Pathology and Forensic Medicine
    • Medicine(all)
    • Genetics

    Cita questo

    Development of an Italian RM Y-STR haplotype database: Results of the 2013 GEFI collaborative exercise. / Seidita, Gregorio; Di Gaetano; Nutini; Casarino; Previderè; Turrina; Ponzano; Resta; Piccinini; Robino; Barbaro; Ferri; Onofri; Verzeletti; Ballantyne; Carnevali; Scarnicci; Kayser; Piglionica; Ralf; Pasino; Sorçaburu-Cigliero; Matullo; Fabbri; Gonzalez; Bini; De Marchi; Giardina.

    In: FORENSIC SCIENCE INTERNATIONAL: GENETICS, Vol. 15, 2015, pag. 56-63.

    Risultato della ricerca: Article

    Seidita, G, Di Gaetano, Nutini, Casarino, Previderè, Turrina, Ponzano, Resta, Piccinini, Robino, Barbaro, Ferri, Onofri, Verzeletti, Ballantyne, Carnevali, Scarnicci, Kayser, Piglionica, Ralf, Pasino, Sorçaburu-Cigliero, Matullo, Fabbri, Gonzalez, Bini, De Marchi & Giardina 2015, 'Development of an Italian RM Y-STR haplotype database: Results of the 2013 GEFI collaborative exercise', FORENSIC SCIENCE INTERNATIONAL: GENETICS, vol. 15, pagg. 56-63.
    Seidita, Gregorio ; Di Gaetano ; Nutini ; Casarino ; Previderè ; Turrina ; Ponzano ; Resta ; Piccinini ; Robino ; Barbaro ; Ferri ; Onofri ; Verzeletti ; Ballantyne ; Carnevali ; Scarnicci ; Kayser ; Piglionica ; Ralf ; Pasino ; Sorçaburu-Cigliero ; Matullo ; Fabbri ; Gonzalez ; Bini ; De Marchi ; Giardina. / Development of an Italian RM Y-STR haplotype database: Results of the 2013 GEFI collaborative exercise. In: FORENSIC SCIENCE INTERNATIONAL: GENETICS. 2015 ; Vol. 15. pagg. 56-63.
    @article{5828ff7d0b1749d1bf3d2c78232d99ea,
    title = "Development of an Italian RM Y-STR haplotype database: Results of the 2013 GEFI collaborative exercise",
    abstract = "Recently introduced rapidly mutating Y-chromosomal short tandem repeat (RM Y-STR) loci, displaying a multiple-fold higher mutation rate relative to any other Y-STRs, including those conventionally used in forensic casework, have been demonstrated to improve the resolution of male lineage differentiation and to allow male relative separation usually impossible with standard Y-STRs. However, large and geographically-detailed frequency haplotype databases are required to estimate the statistical weight of RM Y-STR haplotype matches if observed in forensic casework. With this in mind, the Italian Working Group (GEFI) of the International Society for Forensic Genetics launched a collaborative exercise aimed at generating an Italian quality controlled forensic RM Y-STR haplotype database. Overall 1509 male individuals from 13 regional populations covering northern, central and southern areas of the Italian peninsula plus Sicily were collected, including both {"}rural{"} and {"}urban{"} samples classified according to population density in the sampling area. A subset of individuals was additionally genotyped for Y-STR loci included in the Yfiler and PowerPlex Y23 (PPY23) systems (75{\%} and 62{\%}, respectively), allowing the comparison of RM and conventional Y-STRs. Considering the whole set of 13 RM Y-STRs, 1501 unique haplotypes were observed among the 1509 sampled Italian men with a haplotype diversity of 0.999996, largely superior to Yfiler and PPY23 with 0.999914 and 0.999950, respectively. AMOVA indicated that 99.996{\%} of the haplotype variation was within populations, confirming that genetic-geographic structure is almost undetected by RM Y-STRs. Haplotype sharing among regional Italian populations was not observed at all with the complete set of 13 RM Y-STRs. Haplotype sharing within Italian populations was very rare (0.27{\%} non-unique haplotypes), and lower in urban (0.22{\%}) than rural (0.29{\%}) areas. Additionally, 422 father-son pairs were investigated, and 20.1{\%} of them could be discriminated by the whole set of 13 RM Y-STRs, which was very close to the theoretically expected estimate of 19.5{\%} given the mutation rates of the markers used. Results obtained from a high-coverage Italian haplotype dataset confirm on the regional scale the exceptional ability of RM Y-STRs to resolve male lineages previously observed globally, and attest the unsurpassed value of RM Y-STRs for male-relative differentiation purposes.",
    author = "Gregorio Seidita and {Di Gaetano} and Nutini and Casarino and Previder{\`e} and Turrina and Ponzano and Resta and Piccinini and Robino and Barbaro and Ferri and Onofri and Verzeletti and Ballantyne and Carnevali and Scarnicci and Kayser and Piglionica and Ralf and Pasino and Sor{\cc}aburu-Cigliero and Matullo and Fabbri and Gonzalez and Bini and {De Marchi} and Giardina",
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    T1 - Development of an Italian RM Y-STR haplotype database: Results of the 2013 GEFI collaborative exercise

    AU - Seidita, Gregorio

    AU - Di Gaetano, null

    AU - Nutini, null

    AU - Casarino, null

    AU - Previderè, null

    AU - Turrina, null

    AU - Ponzano, null

    AU - Resta, null

    AU - Piccinini, null

    AU - Robino, null

    AU - Barbaro, null

    AU - Ferri, null

    AU - Onofri, null

    AU - Verzeletti, null

    AU - Ballantyne, null

    AU - Carnevali, null

    AU - Scarnicci, null

    AU - Kayser, null

    AU - Piglionica, null

    AU - Ralf, null

    AU - Pasino, null

    AU - Sorçaburu-Cigliero, null

    AU - Matullo, null

    AU - Fabbri, null

    AU - Gonzalez, null

    AU - Bini, null

    AU - De Marchi, null

    AU - Giardina, null

    PY - 2015

    Y1 - 2015

    N2 - Recently introduced rapidly mutating Y-chromosomal short tandem repeat (RM Y-STR) loci, displaying a multiple-fold higher mutation rate relative to any other Y-STRs, including those conventionally used in forensic casework, have been demonstrated to improve the resolution of male lineage differentiation and to allow male relative separation usually impossible with standard Y-STRs. However, large and geographically-detailed frequency haplotype databases are required to estimate the statistical weight of RM Y-STR haplotype matches if observed in forensic casework. With this in mind, the Italian Working Group (GEFI) of the International Society for Forensic Genetics launched a collaborative exercise aimed at generating an Italian quality controlled forensic RM Y-STR haplotype database. Overall 1509 male individuals from 13 regional populations covering northern, central and southern areas of the Italian peninsula plus Sicily were collected, including both "rural" and "urban" samples classified according to population density in the sampling area. A subset of individuals was additionally genotyped for Y-STR loci included in the Yfiler and PowerPlex Y23 (PPY23) systems (75% and 62%, respectively), allowing the comparison of RM and conventional Y-STRs. Considering the whole set of 13 RM Y-STRs, 1501 unique haplotypes were observed among the 1509 sampled Italian men with a haplotype diversity of 0.999996, largely superior to Yfiler and PPY23 with 0.999914 and 0.999950, respectively. AMOVA indicated that 99.996% of the haplotype variation was within populations, confirming that genetic-geographic structure is almost undetected by RM Y-STRs. Haplotype sharing among regional Italian populations was not observed at all with the complete set of 13 RM Y-STRs. Haplotype sharing within Italian populations was very rare (0.27% non-unique haplotypes), and lower in urban (0.22%) than rural (0.29%) areas. Additionally, 422 father-son pairs were investigated, and 20.1% of them could be discriminated by the whole set of 13 RM Y-STRs, which was very close to the theoretically expected estimate of 19.5% given the mutation rates of the markers used. Results obtained from a high-coverage Italian haplotype dataset confirm on the regional scale the exceptional ability of RM Y-STRs to resolve male lineages previously observed globally, and attest the unsurpassed value of RM Y-STRs for male-relative differentiation purposes.

    AB - Recently introduced rapidly mutating Y-chromosomal short tandem repeat (RM Y-STR) loci, displaying a multiple-fold higher mutation rate relative to any other Y-STRs, including those conventionally used in forensic casework, have been demonstrated to improve the resolution of male lineage differentiation and to allow male relative separation usually impossible with standard Y-STRs. However, large and geographically-detailed frequency haplotype databases are required to estimate the statistical weight of RM Y-STR haplotype matches if observed in forensic casework. With this in mind, the Italian Working Group (GEFI) of the International Society for Forensic Genetics launched a collaborative exercise aimed at generating an Italian quality controlled forensic RM Y-STR haplotype database. Overall 1509 male individuals from 13 regional populations covering northern, central and southern areas of the Italian peninsula plus Sicily were collected, including both "rural" and "urban" samples classified according to population density in the sampling area. A subset of individuals was additionally genotyped for Y-STR loci included in the Yfiler and PowerPlex Y23 (PPY23) systems (75% and 62%, respectively), allowing the comparison of RM and conventional Y-STRs. Considering the whole set of 13 RM Y-STRs, 1501 unique haplotypes were observed among the 1509 sampled Italian men with a haplotype diversity of 0.999996, largely superior to Yfiler and PPY23 with 0.999914 and 0.999950, respectively. AMOVA indicated that 99.996% of the haplotype variation was within populations, confirming that genetic-geographic structure is almost undetected by RM Y-STRs. Haplotype sharing among regional Italian populations was not observed at all with the complete set of 13 RM Y-STRs. Haplotype sharing within Italian populations was very rare (0.27% non-unique haplotypes), and lower in urban (0.22%) than rural (0.29%) areas. Additionally, 422 father-son pairs were investigated, and 20.1% of them could be discriminated by the whole set of 13 RM Y-STRs, which was very close to the theoretically expected estimate of 19.5% given the mutation rates of the markers used. Results obtained from a high-coverage Italian haplotype dataset confirm on the regional scale the exceptional ability of RM Y-STRs to resolve male lineages previously observed globally, and attest the unsurpassed value of RM Y-STRs for male-relative differentiation purposes.

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