Chromosome Y microsatellites: population genetic and evolutionary aspects

International Journal of Legal Medicine - Tập 110 - Trang 134-140 - 1997
P. de Knijff1, M. Kayser2, A. Caglià3, D. Corach4, N. Fretwell5, C. Gehrig6, G. Graziosi7, F. Heidorn8, S. Herrmann9, B. Herzog10, M. Hidding11, K. Honda12, M. Jobling5, M. Krawczak13, K. Leim14, S. Meuser15, E. Meyer16, W. Oesterreich17, A. Pandya18, W. Parson19, G. Penacino4, A. Perez-Lezaun20, A. Piccinini21, M. Prinz22, C. Schmitt11, P. M. Schneider15, R. Szibor23, J. Teifel-Greding24, G. Weichhold25, L. Roewer2
1Forensic Laboratory for DNA Research, MGC-Department of Human Genetics, Leiden University, P.O.Box 9503, 2300 RA Leiden, The Netherlands FAX: +3 (71) 527 4517, , NL
2Institut für Gerichtliche Medizin, Hannoversche Strasse 6, D-10115 Berlin, Germany, , DE
3Instituto di Medicina Legale, Universitá Cattolica del S. Cuore, Largo Francesco Vito 1, I-00168 Roma, Italy, , FR
4Servicio de Huellas Digitales Geneticas, Facultad de Farmacia y Bioquimica UBA, Junin 956, 1113 Buenos Aires, Argentina, , AR
5Department of Genetics, University of Leicester, University Road, Leicester LEI 7RH, UK, , GB
6Institut für Rechtsmedizin, Buehlstrasse 20, CH-3012 Bern, Switzerland, , CH
7Department of Biology, University of Trieste, Via Giorgeri 5, I-34127 Trieste, Italy, , IT
8Institut für Rechtsmedizin, Hittorfstrasse 18, D-14195 Berlin, Germany, , DE
9Landeskriminalamt Berlin, Gothaer Strasse 19, D-10823 Berlin, Germany, , DE
10Institut für Rechtsmedizin, Fürstengraben 2, D-07743 Jena, Germany, , DE
11Institut für Rechtsmedizin, Melatengürtel 60–62, D-50823 Köln, Germany, , DE
12Department of Legal Medicine, Osaka University Medical School, 2-2 Yamadaoka, Suita, Osaka 565, Japan, , JP
13Institute of Medical Genetics, University of Wales, Heath Park, Cardiff CF4 4XN, UK, , GB
14Institut für Rechtsmedizin, Vosstrasse 2, 69115 Heidelberg, Germany, , DE
15Institut für Rechtsmedizin, Am Pulverturm 3, D-55131 Mainz, Germany, , DE
16Institut für Rechtsmedizin, von-Esmarch-Strasse 86, D-48149 Münster, Germany, , DE
17Landeskriminalamt Brandenburg, Prenzlauer Strasse 66–70, D-16352 Basdorf, Germany, , DE
18CRC Chromosome Molecular Biology Group, Department of Biochemistry, University of Oxford, South Parks Road, Oxford, OX1 3QU, UK, , GB
19Institut für Gerichtliche Medizin, Müllerstrasse 44, A-6020 Innsbruck, Austria, , AT
20Department Anthropologia, Facultat Biologia, Universitat de Barcelona, Diagonal 645, Barcelona 08028, Spain, , ES
21Instituto di Medicina Legale, Universitá Milano, Via Mangiagalli 37, I-20133 Milano, Italy, , IT
22Department of Forensic Biology, OCME, 520 First Avenue, NY 10016 New York, USA, , US
23Institut für Rechtsmedizin, Leipziger Strasse 44, D-39112 Magdeburg, Germany, , DE
24Bayerisches Landeskriminalamt, Maillingerstrasse 15, D-80636 München, Germany, , DE
25Institut für Rechtsmedizin, Frauenlobstrasse 7a, D-80337 München, Germany, , DE

Tóm tắt

By means of a multicenter study, a large number of males have been characterized for Y-chromosome specific short tandem repeats (STRs) or microsatellites. A complete summary of the allele frequency distributions for these Y-STRs is presented in the Appendix. This manuscript describes in more detail some of the population genetic and evolutionary aspects for a restricted set of seven chromosome Y STRs in a selected number of population samples. For all the chromosome Y STRs markedly different region-specific allele frequency distributions were observed, also when closely related populations were compared. Haplotype analyses using AMOVA showed that when four different European male groups (Germans, Dutch, Swiss, Italians) were compared, less than 10% of the total genetic variability was due to differences between these populations. Nevertheless, these pairwise comparisons revealed significant differences between most population pairs. Assuming a step-wise mutation model and a mutation frequency of 0.21%, it was estimated that chromosome Y STR-based evolutionary lines of descent can be reliably inferred over a time-span of only 1950 generations (or about 49000 years). This reduces the reliability of the inference of population affinities to a historical, rather than evolutionary time scale. This is best illustrated by the construction of a human evolutionary tree based on chromosome Y STRs in which most of the branches connect in a markedly different way compared with trees based on classical protein polymorphisms and/or mtDNA sequence variation. Thus, the chromosome Y STRs seem to be very useful in comparing closely related populations which cannot probably be separated by e.g. autosomal STRs. However, in order to be used in an evolutionary context they need to be combined with more stable Y-polymorphisms e.g. base-substitutions.

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International Journal of Legal Medicine

Tập 110

134-140

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