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, 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, Pajnič Irena Zupanič, Kayser Manfred
Department of Forensic Molecular Biology, Erasmus MC University Medical Centre Rotterdam, Rotterdam, The Netherlands; Office of the Chief Forensic Scientist, Victoria Police Forensic Services Department, Macleod, Victoria, Australia.
Hum Mutat. 2014 Aug;35(8):1021-32. doi: 10.1002/humu.22599. Epub 2014 Jul 14.
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.
Y染色体短串联重复序列（Y-STRs）与人类遗传学的各个领域相关，常用于检测个体和群体之间的近亲父系关系以及进行男性谱系鉴定。然而，即使是广泛使用的17个位点的Yfiler试剂盒也无法完全区分个体和群体。在此，52个中心生成了来自全球111个群体的14,644名相关和不相关男性中13个快速突变（RM）Y-STRs的质量控制数据。令人惊讶的是，12,272名不相关男性中>99%能够被完全区分。单倍型多样性极高（全球：0.9999985，区域：0.99836 - 0.9999988）。除了12,156个单倍型中的6个（0.05%）外，群体之间几乎不存在单倍型共享。群体内部的单倍型共享通常很少见（0.8%的非独特单倍型），城市地区（0.9%）明显低于农村地区（2.1%），在近亲通婚群体中最高（14.3%）。分子方差分析显示，99.98%的变异存在于群体内部，0.018%存在于组内群体之间，0.002%存在于组间。在2,372对新检测和156对先前检测的男性亲属对中，29%能够被区分，其中包括2,378对父子对中的27%。相对于Yfiler，在86%的测试群体中单倍型多样性增加，总体男性亲属区分度提高了23.5%。我们的研究证明了RM Y-STRs在识别和区分不相关和相关男性方面的价值，并提供了一个参考数据库。
