Collaborative genetic mapping of 12 forensic short tandem repeat (STR) loci on the human X chromosome.
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Collaborative genetic mapping of 12 forensic short tandem repeat (STR) loci on the human X chromosome. / Nothnagel, Michael; Szibor, Reinhard; Vollrath, Oliver; Augustin, Christa; Edelmann, Jeanett; Geppert, Maria; Alves, Cíntia; Gusmão, Leonor; Vennemann, Marielle; Hou, Yiping; Immel, Uta-Dorothee; Inturri, Serena; Luo, Haibo; Lutz-Bonengel, Sabine; Robino, Carlo; Roewer, Lutz; Rolf, Burkhard; Sanft, Juliane; Shin, Kyoung-Jin; Sim, Jeong Eun; Wiegand, Peter; Winkler, Christian; Krawczak, Michael; Hering, Sandra.
In: Forensic Sci Int Genet, Vol. 6, No. 6, 6, 2012, p. 778-784.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
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TY - JOUR
T1 - Collaborative genetic mapping of 12 forensic short tandem repeat (STR) loci on the human X chromosome.
AU - Nothnagel, Michael
AU - Szibor, Reinhard
AU - Vollrath, Oliver
AU - Augustin, Christa
AU - Edelmann, Jeanett
AU - Geppert, Maria
AU - Alves, Cíntia
AU - Gusmão, Leonor
AU - Vennemann, Marielle
AU - Hou, Yiping
AU - Immel, Uta-Dorothee
AU - Inturri, Serena
AU - Luo, Haibo
AU - Lutz-Bonengel, Sabine
AU - Robino, Carlo
AU - Roewer, Lutz
AU - Rolf, Burkhard
AU - Sanft, Juliane
AU - Shin, Kyoung-Jin
AU - Sim, Jeong Eun
AU - Wiegand, Peter
AU - Winkler, Christian
AU - Krawczak, Michael
AU - Hering, Sandra
PY - 2012
Y1 - 2012
N2 - 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.
AB - 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.
KW - Humans
KW - Genotype
KW - Haplotypes
KW - Likelihood Functions
KW - Genetic Loci
KW - Multiplex Polymerase Chain Reaction
KW - Chromosome Mapping/methods
KW - Chromosomes, Human, X
KW - DNA Fingerprinting/methods
KW - Microsatellite Repeats
KW - Humans
KW - Genotype
KW - Haplotypes
KW - Likelihood Functions
KW - Genetic Loci
KW - Multiplex Polymerase Chain Reaction
KW - Chromosome Mapping/methods
KW - Chromosomes, Human, X
KW - DNA Fingerprinting/methods
KW - Microsatellite Repeats
M3 - SCORING: Journal article
VL - 6
SP - 778
EP - 784
JO - Forensic Sci Int Genet
JF - Forensic Sci Int Genet
SN - 1878-0326
IS - 6
M1 - 6
ER -
