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

• Autores: Ballantyne, Kaye N.; Ralf, Arwin; Aboukhalid, Rachid; Achakzai, Niaz M.; Anjos, Maria J.; Bobillo, Maria Cecilia; Daniel Corach; Sala, Adriana Andrea; 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; Gaag, Kristiaan J. van der; Vanek, Daniel; Völgyi, Antónia; Ward, Denise; Willemse, Patricia; Yap, Eric P. H.; Yong, Rita Y. Y.; Zupanič Pajnič, Irena; Kayser, Manfred
• Año de publicación: 2014
• Idioma: inglés
• Tipo de recurso: artículo
• Materia: Y-STR; rapid mutation
• Institución: Consejo Nacional de Investigaciones Científicas y Técnicas

Relevant for various areas of human genetics, Y-chromosomal short tandem repeats (Y-STRs) are commonly used for testing close paternal relationships among 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: 0.99836–0.9999988). 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% nonunique haplotypes), significantly lower in urban (0.9%) than rural (2.1%) and highest in endogamous groups (14.3%). Analysis of molecular variance 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 father–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.
Fil: Ballantyne, Kaye N.. Erasmus MC University Medical Centre Rotterdam; Países Bajos
Fil: Ralf, Arwin. Erasmus MC University Medical Centre Rotterdam; Países Bajos
Fil: Aboukhalid, Rachid. Mohammed V Agdal University; Marruecos
Fil: Achakzai, Niaz M.. University of the Punjab; Pakistán
Fil: Anjos, Maria J.. National Institute of Legal Medicine and Forensic Sciences; Portugal
Fil: Bobillo, Maria Cecilia. Universidad de Buenos Aires. Facultad de Farmacia y Bioquímica. Servicio de Huellas Digitales Genéticas; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina
Fil: Daniel Corach. Universidad de Buenos Aires. Facultad de Farmacia y Bioquímica. Servicio de Huellas Digitales Genéticas; Argentina
Fil: Sala, Adriana Andrea. Universidad de Buenos Aires. Facultad de Farmacia y Bioquímica. Servicio de Huellas Digitales Genéticas; Argentina
Fil: Sirker, Miriam. University of Cologne. Faculty of Medicine. Institute of Legal Medicine; Alemania
Fil: Siváková, Daniela. University in Bratislava; Eslovaquia
Fil: Škaro, Vedrana. Genos Ltd, Zagreb. DNA Laboratory; Croacia
Fil: Solano Matamoros, Carlos. Universidad de Costa Rica; Costa Rica
Fil: Souto, Luis. Universidade de Aveiro; Portugal
Fil: Stenzl, Vlastimil. Institute of Criminalistics Prague; República Checa
Fil: Sudoyo, Herawati. Eijkman Institute for Molecular Biology; Indonesia
Fil: Syndercombe Court, Denise. King; Reino Unido
Fil: Tagliabracci, Adriano. Università Politecnica delle Marche; Italia
Fil: Taylor, Duncan. Flinders University; Australia
Fil: Tillmar, Andreas. Linköping University; Suecia
Fil: Tsybovsky, Iosif S.. Scientific and Practical Centre of the State Committee of Forensic Expertises; Bielorrusia
Fil: Tyler Smith, Chris. The Wellcome Trust Sanger Institute. Wellcome Trust Genome Campus, ; Reino Unido
Fil: Gaag, Kristiaan J. van der. Leiden University Medical Center. Department of Human Genetics; Países Bajos
Fil: Vanek, Daniel. Charles University. Institute of the Legal Medicine; República Checa. Forensic DNA Service; República Checa
Fil: Völgyi, Antónia. Ministry of Public Administration and Justice; Hungría. Network of Forensic Science Institutes. Institute of Forensic Medicine. DNA Laboratory; Hungría
Fil: Ward, Denise. Forensic Science South Australia; Australia
Fil: Willemse, Patricia. Leiden University Medical Center; Países Bajos
Fil: Yap, Eric P. H.. DSO National Laboratories. Defence Medical and Environmental Research Institute; Singapur
Fil: Yong, Rita Y. Y.. DSO National Laboratories. Defence Medical and Environmental Research Institute; Singapur
Fil: Zupanič Pajnič, Irena. University of Ljubljana. Faculty of Medicine. Institute of Forensic Medicine; Eslovenia
Fil: Kayser, Manfred. Erasmus MC University Medical Centre Rotterdam; Países Bajos