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Collaborative genetic mapping of 12 forensic short tandem repeat (STR) loci on the human X chromosome

Authors
 Michael Nothnagel  ;  Reinhard Szibor  ;  Oliver Vollrath  ;  Christa Augustin  ;  Jeanett Edelmann  ;  Maria Geppert  ;  Cíntia Alves  ;  Leonor Gusmão  ;  Marielle Vennemann  ;  Yiping Hou  ;  Uta-Dorothee Immel  ;  Serena Inturri  ;  Haibo Luo  ;  Sabine Lutz-Bonengel  ;  Carlo Robino  ;  Lutz Roewer  ;  Burkhard Rolf  ;  Juliane Sanft  ;  Kyoung-Jin Shin  ;  Jeong Eun Sim  ;  Peter Wiegand  ;  Christian Winkler  ;  Michael Krawczak  ;  Sandra Hering 
Citation
 FORENSIC SCIENCE INTERNATIONAL-GENETICS, Vol.6(6) : 778-784, 2012 
Journal Title
FORENSIC SCIENCE INTERNATIONAL-GENETICS
ISSN
 1872-4973 
Issue Date
2012
MeSH
Chromosome Mapping/methods* ; Chromosomes, Human, X* ; DNA Fingerprinting/methods* ; Genetic Loci* ; Genotype ; Haplotypes ; Humans ; Likelihood Functions ; Microsatellite Repeats* ; Multiplex Polymerase Chain Reaction
Keywords
X chromosome ; Haplotyping ; Recombination ; STR ; Kinship testing
Abstract
A large number of short tandem repeat (STR) markers spanning the entire human X chromosome have been described and established for use in forensic genetic testing. Due to their particular mode of inheritance, X-STRs often allow easy and informative haplotyping in kinship analyses. Moreover, some X-STRs are known to be tightly linked so that, in combination, they constitute even more complex genetic markers than each STR taken individually. As a consequence, X-STRs have proven particularly powerful in solving complex cases of disputed blood relatedness. However, valid quantification of the evidence provided by X-STR genotypes in the form of likelihood ratios requires that the recombination rates between markers are exactly known. In a collaborative family study, we used X-STR genotype data from 401 two- and three-generation families to derive valid estimates of the recombination rates between 12 forensic markers widely used in forensic testing, namely DXS10148, DXS10135, DXS8378 (together constituting linkage group I), DXS7132, DXS10079, DXS10074 (linkage group II), DXS10103, HPRTB, DXS10101 (linkage group III), DXS10146, DXS10134 and DXS7423 (linkage group IV). Our study is the first to simultaneously allow for mutation and recombination in the underlying likelihood calculations, thereby obviating the bias-prone practice of excluding ambiguous transmission events from further consideration. The statistical analysis confirms that linkage groups I and II are transmitted independently from one another whereas linkage groups II, III and IV are characterised by inter-group recombination fractions that are notably smaller than 50%. Evidence was also found for recombination within all four linkage groups, with recombination fraction estimates ranging as high as 2% in the case of DXS10146 and DXS10134.
Full Text
http://www.sciencedirect.com/science/article/pii/S1872497312000713
DOI
22459949
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Forensic Medicine (법의학과) > 1. Journal Papers
Yonsei Authors
Shin, Kyoung Jin(신경진) ORCID logo https://orcid.org/0000-0002-1059-9665
Sim, Jeong Eun(심정은)
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/90297
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