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1. Identification of West Eurasian mitochondrial haplogroups by mtDNA SNP screening: Results of the 2006–2007 EDNAP collaborative exercise

Author

Parson, Walther, Fendt, Liane, Ballard, David, Børsting, Claus, Brinkmann, Bernd, Carracedo, Ángel, Carvalho, Mónica, Coble, Michael D., Real, Francisco Corte, Desmyter, Stijn, Dupuy, Berit M., Harrison, Cheryl, Hohoff, Carsten, Just, Rebecca, Krämer, Tanja, Morling, Niels, Salas, Antonio, Schmitter, Hermann, Schneider, Peter M., Sonntag, Marie-Luise, Vallone, Peter M., and Brandstätter, Anita

Published
2008
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2. Toward Male Individualization with Rapidly Mutating Y-Chromosomal Short Tandem Repeats

Author

Ballantyne, Kaye N., Ralf, Arwin, Aboukhalid, Rachid, Achakzai, Niaz M., Anjos, Maria J., Ayub, Qasim, Balažic, Jože, Ballantyne, Jack, Ballard, David J., Berger, Burkhard, Bobillo, Cecilia, Bouabdellah, Mehdi, Burri, Helen, Capal, Tomas, Caratti, Stefano, Cárdenas, Jorge, Cartault, François, Carvalho, Elizeu F., Carvalho, Monica, Cheng, Baowen, Coble, Michael D., Comas, David, Corach, Daniel, DʼAmato, Maria E., Davison, Sean, de Knijff, Peter, De Ungria, Maria Corazon A., Decorte, Ronny, Dobosz, Tadeusz, Dupuy, Berit M., Elmrghni, Samir, Gliwiński, Mateusz, Gomes, Sara C., Grol, Laurens, Haas, Cordula, Hanson, Erin, Henke, Jürgen, Henke, Lotte, Herrera-Rodríguez, Fabiola, Hill, Carolyn R., Holmlund, Gunilla, Honda, Katsuya, Immel, Uta-Dorothee, Inokuchi, Shota, Jobling, Mark A., Kaddura, Mahmoud, Kim, Jong S., Kim, Soon H., Kim, Wook, King, Turi E., Klausriegler, Eva, Kling, Daniel, Kovačević, Lejla, Kovatsi, Leda, Krajewski, Paweł, Kravchenko, Sergey, Larmuseau, Maarten H. D., Lee, Eun Young, Lessig, Ruediger, Livshits, Ludmila A., Marjanović, Damir, Minarik, Marek, Mizuno, Natsuko, Moreira, Helena, Morling, Niels, Mukherjee, Meeta, Munier, Patrick, Nagaraju, Javaregowda, Neuhuber, Franz, Nie, Shengjie, Nilasitsataporn, Premlaphat, Nishi, Takeki, Oh, Hye H., Olofsson, Jill, Onofri, Valerio, Palo, Jukka U., Pamjav, Horolma, Parson, Walther, Petlach, Michal, Phillips, Christopher, Ploski, Rafal, Prasad, Samayamantri P. R., Primorac, Dragan, Purnomo, Gludhug A., Purps, Josephine, Rangel-Villalobos, Hector, Rębała, Krzysztof, Rerkamnuaychoke, Budsaba, Gonzalez, Danel Rey, Robino, Carlo, Roewer, Lutz, Rosa, Alexandra, Sajantila, Antti, Sala, Andrea, Salvador, Jazelyn M., Sanz, Paula, Schmitt, Cornelia, Sharma, Anil K., Silva, Dayse A., Shin, Kyoung-Jin, Sijen, Titia, Sirker, Miriam, Siváková, Daniela, Škaro, Vedrana, Solano-Matamoros, Carlos, Souto, Luis, Stenzl, Vlastimil, Sudoyo, Herawati, Syndercombe-Court, Denise, Tagliabracci, Adriano, Taylor, Duncan, Tillmar, Andreas, Tsybovsky, Iosif S., Tyler-Smith, Chris, van der Gaag, Kristiaan J., Vanek, Daniel, Völgyi, Antónia, Ward, Denise, Willemse, Patricia, Yap, Eric P.H., Yong, Rita Y.Y., Zupanič Pajnič, Irena, and Kayser, Manfred

Published
2014
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4. Towards male individualization with rapidly mutating Y-chromosomal STRs

Author

Ballantyne, Kaye N, Ralf, Arwin, Aboukhalid, Rachid, Achakzai, Niaz M, Anjos, Maria J, Ayub, Qasim, Balažic, Jože, Ballantyne, Jack, Ballard, David J, Berger, Burkhard, Bobillo, Cecilia, Bouabdellah, Mehdi, Burri, Helen, Capal, Tomas, Caratti, Stefano, Cárdenas, Jorge, Cartault, François, Carvalho, Elizeu F, Carvalho, Monica, Cheng, Baowen, Coble, Michael D, Comas, David, Corach, Daniel, D'Amato, Maria E, Davison, Sean, de Knijff, Peter, De Ungria, Maria Corazon A, Decorte, Ronny, Dobosz, Tadeusz, Dupuy, Berit M, Elmrghni, Samir, Gliwiński, Mateusz, Gomes, Sara C, Grol, Laurens, Haas, Cordula, Hanson, Erin, Henke, Jürgen, Henke, Lotte, Herrera-Rodríguez, Fabiola, Hill, Carolyn R, Holmlund, Gunilla, Honda, Katsuya, Immel, Uta-Dorothee, Inokuchi, Shota, Jobling, Mark A, Kaddura, Mahmoud, Kim, Jong S, Kim, Soon H, Kim, Wook, King, Turi E, Klausriegler, Eva, Kling, Daniel, Kovačević, Lejla, Kovatsi, Leda, Krajewski, Paweł, Kravchenko, Sergey, Larmuseau, Maarten H D, Lee, Eun Young, Lessig, Ruediger, Livshits, Ludmila A, Marjanović, Damir, Minarik, Marek, Mizuno, Natsuko, Moreira, Helena, Morling, Niels, Mukherjee, Meeta, Munier, Patrick, Nagaraju, Javaregowda, Neuhuber, Franz, Nie, Shengjie, Nilasitsataporn, Premlaphat, Nishi, Takeki, Oh, Hye H, Olofsson, Jill, Onofri, Valerio, Palo, Jukka U, Pamjav, Horolma, Parson, Walther, Petlach, Michal, Phillips, Christopher, Ploski, Rafal, Prasad, Samayamantri P R, Primorac, Dragan, Purnomo, Gludhug A, Purps, Josephine, Rangel-Villalobos, Hector, Rębała, Krzysztof, Rerkamnuaychoke, Budsaba, Gonzalez, Danel Rey, Robino, Carlo, Roewer, Lutz, Rosa, Alexandra, Sajantila, Antti, Sala, Andrea, Salvador, Jazelyn M, Sanz, Paula, Schmitt, Cornelia, Sharma, Anil K, Silva, Dayse A, Shin, Kyoung-Jin, Sijen, Titia, Sirker, Miriam, Siváková, Daniela, Skaro, Vedrana, Solano-Matamoros, Carlos, Souto, Luis, Stenzl, Vlastimil, Sudoyo, Herawati, Court, Denise Syndercombe, Tagliabracci, Adriano, Taylor, Duncan, Tillmar, Andreas, Tsybovsky, Iosif S, Tyler-Smith, Chris, van der Gaag, Kristiaan J, Vanek, Daniel, Völgyi, Antónia, Ward, Denise, Willemse, Patricia, Yap, Eric P H, Yong, Rita Y Y, Pajnič, Irena Zupanič, and Kayser, Manfred

Abstract

Relevant for various areas of human genetics, Y-chromosomal STRs (Y-STRs) are commonly used for testing close paternal relationships amongst individuals and populations, and for male lineage identification. However, even the widely used 17-loci Yfiler set cannot resolve individuals and populations completely. Here, 52 centers generated quality-controlled data of 13 rapidly-mutating (RM) Y-STRs in 14,644 related and unrelated males from 111 worldwide populations. Strikingly, >99% of the 12,272 unrelated males were completely individualized. Haplotype diversity was extremely high (global: 0.9999985, regional: 0.99919-0.9999988). Haplotype sharing between populations was almost absent except for six (0.05%) of the 12,156 haplotypes. Haplotype sharing within populations was generally rare (0.8% non-unique haplotypes), significantly lower in urban (0.9%) than rural (2.1%) and highest in endogamous groups (14.3%). AMOVA revealed 99.98% of variation within populations, 0.018% among populations within groups, and 0.002% among groups. Of the 2,372 newly and 156 previously typed male relative pairs, 29% were differentiated including 27% of the 2,378 fathers/son pairs. Relative to Yfiler, haplotype diversity was increased in 86% of the populations tested and overall male relative differentiation was raised by 23.5%. Our study demonstrates the value of RM Y-STRs in identifying and separating unrelated and related males and provides a reference database.

Published
2014

5. Toward Male Individualization with Rapidly Mutating Y-Chromosomal Short Tandem Repeats

Author

Ballantyne, Kaye N, Ralf, Arwin, Aboukhalid, Rachid, Achakzai, Niaz M, Anjos, Maria J, Ayub, Qasim, Balažic, Jože, Ballantyne, Jack, Ballard, David J, Berger, Burkhard, Bobillo, Cecilia, Bouabdellah, Mehdi, Burri, Helen, Capal, Tomas, Caratti, Stefano, Cárdenas, Jorge, Cartault, François, Carvalho, Elizeu F, Carvalho, Monica, Cheng, Baowen, Coble, Michael D, Comas, David, Corach, Daniel, D'Amato, Maria E, Davison, Sean, de Knijff, Peter, De Ungria, Maria Corazon A, Decorte, Ronny, Dobosz, Tadeusz, Dupuy, Berit M, Elmrghni, Samir, Gliwiński, Mateusz, Gomes, Sara C, Grol, Laurens, Haas, Cordula, Hanson, Erin, Henke, Jürgen, Henke, Lotte, Herrera-Rodríguez, Fabiola, Hill, Carolyn R, Holmlund, Gunilla, Honda, Katsuya, Immel, Uta-Dorothee, Inokuchi, Shota, Jobling, Mark A, Kaddura, Mahmoud, Kim, Jong S, Kim, Soon H, Kim, Wook, King, Turi E, Klausriegler, Eva, Kling, Daniel, Kovačević, Lejla, Kovatsi, Leda, Krajewski, Paweł, Kravchenko, Sergey, Larmuseau, Maarten H D, Lee, Eun Young, Lessig, Ruediger, Livshits, Ludmila A, Marjanović, Damir, Minarik, Marek, Mizuno, Natsuko, Moreira, Helena, Morling, Niels, Mukherjee, Meeta, Munier, Patrick, Nagaraju, Javaregowda, Neuhuber, Franz, Nie, Shengjie, Nilasitsataporn, Premlaphat, Nishi, Takeki, Oh, Hye H, Olofsson, Jill Katharina, Onofri, Valerio, Palo, Jukka U, Pamjav, Horolma, Parson, Walther, Petlach, Michal, Phillips, Christopher, Ploski, Rafal, Prasad, Samayamantri P R, Primorac, Dragan, Purnomo, Gludhug A, Purps, Josephine, Rangel-Villalobos, Hector, Rębała, Krzysztof, Rerkamnuaychoke, Budsaba, Gonzalez, Danel Rey, Robino, Carlo, Roewer, Lutz, Rosa, Alexandra, Sajantila, Antti, Sala, Andrea, Salvador, Jazelyn M, Sanz, Paula, Schmitt, Cornelia, Sharma, Anil K, Silva, Dayse A, Shin, Kyoung-Jin, Sijen, Titia, Sirker, Miriam, Siváková, Daniela, Skaro, Vedrana, Solano-Matamoros, Carlos, Souto, Luis, Stenzl, Vlastimil, Sudoyo, Herawati, Court, Denise Syndercombe, Tagliabracci, Adriano, Taylor, Duncan, Tillmar, Andreas, Tsybovsky, Iosif S, Tyler-Smith, Chris, van der Gaag, Kristiaan J, Vanek, Daniel, Völgyi, Antónia, Ward, Denise, Willemse, Patricia, Yap, Eric P H, Yong, Rita Y Y, Pajnič, Irena Zupanič, Kayser, Manfred, Ballantyne, Kaye N, Ralf, Arwin, Aboukhalid, Rachid, Achakzai, Niaz M, Anjos, Maria J, Ayub, Qasim, Balažic, Jože, Ballantyne, Jack, Ballard, David J, Berger, Burkhard, Bobillo, Cecilia, Bouabdellah, Mehdi, Burri, Helen, Capal, Tomas, Caratti, Stefano, Cárdenas, Jorge, Cartault, François, Carvalho, Elizeu F, Carvalho, Monica, Cheng, Baowen, Coble, Michael D, Comas, David, Corach, Daniel, D'Amato, Maria E, Davison, Sean, de Knijff, Peter, De Ungria, Maria Corazon A, Decorte, Ronny, Dobosz, Tadeusz, Dupuy, Berit M, Elmrghni, Samir, Gliwiński, Mateusz, Gomes, Sara C, Grol, Laurens, Haas, Cordula, Hanson, Erin, Henke, Jürgen, Henke, Lotte, Herrera-Rodríguez, Fabiola, Hill, Carolyn R, Holmlund, Gunilla, Honda, Katsuya, Immel, Uta-Dorothee, Inokuchi, Shota, Jobling, Mark A, Kaddura, Mahmoud, Kim, Jong S, Kim, Soon H, Kim, Wook, King, Turi E, Klausriegler, Eva, Kling, Daniel, Kovačević, Lejla, Kovatsi, Leda, Krajewski, Paweł, Kravchenko, Sergey, Larmuseau, Maarten H D, Lee, Eun Young, Lessig, Ruediger, Livshits, Ludmila A, Marjanović, Damir, Minarik, Marek, Mizuno, Natsuko, Moreira, Helena, Morling, Niels, Mukherjee, Meeta, Munier, Patrick, Nagaraju, Javaregowda, Neuhuber, Franz, Nie, Shengjie, Nilasitsataporn, Premlaphat, Nishi, Takeki, Oh, Hye H, Olofsson, Jill Katharina, Onofri, Valerio, Palo, Jukka U, Pamjav, Horolma, Parson, Walther, Petlach, Michal, Phillips, Christopher, Ploski, Rafal, Prasad, Samayamantri P R, Primorac, Dragan, Purnomo, Gludhug A, Purps, Josephine, Rangel-Villalobos, Hector, Rębała, Krzysztof, Rerkamnuaychoke, Budsaba, Gonzalez, Danel Rey, Robino, Carlo, Roewer, Lutz, Rosa, Alexandra, Sajantila, Antti, Sala, Andrea, Salvador, Jazelyn M, Sanz, Paula, Schmitt, Cornelia, Sharma, Anil K, Silva, Dayse A, Shin, Kyoung-Jin, Sijen, Titia, Sirker, Miriam, Siváková, Daniela, Skaro, Vedrana, Solano-Matamoros, Carlos, Souto, Luis, Stenzl, Vlastimil, Sudoyo, Herawati, Court, Denise Syndercombe, Tagliabracci, Adriano, Taylor, Duncan, Tillmar, Andreas, Tsybovsky, Iosif S, Tyler-Smith, Chris, van der Gaag, Kristiaan J, Vanek, Daniel, Völgyi, Antónia, Ward, Denise, Willemse, Patricia, Yap, Eric P H, Yong, Rita Y Y, Pajnič, Irena Zupanič, and Kayser, Manfred

Abstract

Relevant for various areas of human genetics, Y-chromosomal STRs (Y-STRs) are commonly used for testing close paternal relationships amongst individuals and populations, and for male lineage identification. However, even the widely used 17-loci Yfiler set cannot resolve individuals and populations completely. Here, 52 centers generated quality-controlled data of 13 rapidly-mutating (RM) Y-STRs in 14,644 related and unrelated males from 111 worldwide populations. Strikingly, >99% of the 12,272 unrelated males were completely individualized. Haplotype diversity was extremely high (global: 0.9999985, regional: 0.99919-0.9999988). Haplotype sharing between populations was almost absent except for six (0.05%) of the 12,156 haplotypes. Haplotype sharing within populations was generally rare (0.8% non-unique haplotypes), significantly lower in urban (0.9%) than rural (2.1%) and highest in endogamous groups (14.3%). AMOVA revealed 99.98% of variation within populations, 0.018% among populations within groups, and 0.002% among groups. Of the 2,372 newly and 156 previously typed male relative pairs, 29% were differentiated including 27% of the 2,378 fathers/son pairs. Relative to Yfiler, haplotype diversity was increased in 86% of the populations tested and overall male relative differentiation was raised by 23.5%. Our study demonstrates the value of RM Y-STRs in identifying and separating unrelated and related males and provides a reference database. This article is protected by copyright. All rights reserved.

Published
2014

9. Icelandic population data for the STR loci in the AMPFlSTR®SGM Plus™ system and the PowerPlex® Y-system.

Author

Andreassen, Rune, Pereira, Luísa, Dupuy, Berit M., and Mevaag, Bente

Subjects
Y chromosome, NUCLEOTIDE sequence, REPEATED sequence (Genetics), HUMAN population genetics, HETEROZYGOSITY, FORENSIC sciences, HARDY-Weinberg formula, ICELANDERS
Abstract

Abstract: We present allele frequencies and statistical parameters of forensic interest for 10 autosomal STR loci and 12 Y-STR loci obtained from an Icelandic population sample. The testing of the STR loci in the AmpFlSTR®SGM Plus™ kit in 151 unrelated individuals showed heterozygosity frequencies ranging from 0.775 (vWA) to 0.874 (D2S1338). A significant deviation from Hardy–Weinberg equilibrium was observed in vWA, but it was not statistically significant after application of Bonferroni correction. The exact test of differentiation analysis revealed one significant departure from differentiation out of 45 pairwise comparisons, but the departure was not significant after Bonferroni''s correction. Seventy-five different haplotypes were observed in the 100 male samples analysed for the twelve Y-STRs included in the PowerPlex® Y-system. No haplotype was observed more than four times. Pairwise comparisons for genetic distances based on the minimal haplotype diversity showed Iceland to be closer to Norway and Denmark than to Sweden, UK, Ireland and Greenland. As expected, the higher percentage of variation was observed within than among populations (90.40% versus 9.60%, respectively, for R ST). [Copyright &y& Elsevier]

Published
2010
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