Mutability of Y-chromosomal microsatellites: rates, characteristics, molecular bases and forensic implications

作者: Kaye N. Ballantyne , Miriam Goedbloed , Rixun Fang , Onno Schaap , Oscar Lao

DOI: 10.1016/J.AJHG.2010.08.006

关键词:

摘要: Nonrecombining Y-chromosomal microsatellites (Y-STRs) are widely used to infer population histories, discover genealogical relationships, and identify males for criminal justice purposes. Although a key requirement for their application is reliable mutability knowledge, empirical data are only available for a small number of Y-STRs thus far. To rectify this, we analyzed a large number of 186 Y-STR markers in nearly 2000 DNA-confirmed father-son pairs, covering an overall number of 352,999 meiotic transfers …

参考文章(59)
A. Caglià, D. Corach, N. Fretwell, C. Gehrig, G. Graziosi, F. Heidorn, S. Herrmann, B. Herzog, M. Hidding, K. Honda, M. Jobling, M. Krawczak, K. Leim, S. Meuser, E. Meyer, W. Oesterreich, A. Pandya, W. Parson, G. Penacino, A. Perez-Lezaun, A. Piccinini, M. Prinz, C. Schmitt, P. M. Schneider, R. Szibor, J. Teifel-Greding, G. Weichhold, P. de Knijff, L. Roewer, M. Kayser, Evaluation of Y-chromosomal STRs: a multicenter study International Journal of Legal Medicine. ,vol. 110, pp. 125- 133 ,(1997) , 10.1007/S004140050051
Qing-Yang Huang, Fu-Hua Xu, Hui Shen, Hong-Yi Deng, Yong-Jun Liu, Yao-Zhong Liu, Jin-Long Li, Robert R. Recker, Hong-Wen Deng, Mutation Patterns at Dinucleotide Microsatellite Loci in Humans American Journal of Human Genetics. ,vol. 70, pp. 625- 634 ,(2002) , 10.1086/338997
S. Kruglyak, R. T. Durrett, M. D. Schug, C. F. Aquadro, Equilibrium distributions of microsatellite repeat length resulting from a balance between slippage events and point mutations Proceedings of the National Academy of Sciences of the United States of America. ,vol. 95, pp. 10774- 10778 ,(1998) , 10.1073/PNAS.95.18.10774
William Amos, Stephen J. Sawcer, Robert W. Feakes, David C. Rubinsztein, MICROSATELLITES SHOW MUTATIONAL BIAS AND HETEROZYGOTE INSTABILITY Nature Genetics. ,vol. 13, pp. 390- 391 ,(1996) , 10.1038/NG0896-390
Carsten Hohoff, Koji Dewa, Ulla Sibbing, Karolin Hoppe, Peter Forster, Bernd Brinkmann, Y-chromosomal microsatellite mutation rates in a population sample from northwestern Germany. International Journal of Legal Medicine. ,vol. 121, pp. 359- 363 ,(2007) , 10.1007/S00414-006-0123-9
Kateryna D. Makova, Wen-Hsiung Li, Strong male-driven evolution of DNA sequences in humans and apes Nature. ,vol. 416, pp. 624- 626 ,(2002) , 10.1038/416624A
Manfred Kayser, Mark Vermeulen, Hans Knoblauch, Herbert Schuster, Michael Krawczak, Lutz Roewer, Relating two deep-rooted pedigrees from Central Germany by high-resolution Y-STR haplotyping. Forensic Science International-genetics. ,vol. 1, pp. 125- 128 ,(2007) , 10.1016/J.FSIGEN.2007.02.004
R. Chakraborty, M. Kimmel, D. N. Stivers, L. J. Davison, R. Deka, RELATIVE MUTATION RATES AT DI-, TRI-, AND TETRANUCLEOTIDE MICROSATELLITE LOCI Proceedings of the National Academy of Sciences of the United States of America. ,vol. 94, pp. 1041- 1046 ,(1997) , 10.1073/PNAS.94.3.1041
Mark A. Jobling, Chris Tyler-Smith, The human Y chromosome: an evolutionary marker comes of age Nature Reviews Genetics. ,vol. 4, pp. 598- 612 ,(2003) , 10.1038/NRG1124
Manfred Kayser, Antti Sajantila, Mutations at Y-STR loci: implications for paternity testing and forensic analysis. Forensic Science International. ,vol. 118, pp. 116- 121 ,(2001) , 10.1016/S0379-0738(00)00480-1