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

Nothnagel, Michael; Szibor, R.; Vollrath, Oliver; Augustin, Christa; Edelmann, Jeanett; Geppert, Martin; Alves, Cı́ntia; Gusmão, Leonor; Vennemann, Marielle; Hou, Yiping; Immel, Uta-Dorothee; Inturri, S.; Luo, Haibo; Lutz-Bonengel, Sabine; Robino, Carlo; Roewer, Lutz; Rolf, Burkhard; Sanft, Juliane; Shin, Kyoung Jin; Sim, Jeong Eun; Wiegand, Peter; Winkler, Christoph; Krawczak, Michael; Hering, Sandra

doi:10.1016/j.fsigen.2012.02.015

Cited by 66 publications

(58 citation statements)

References 27 publications

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“…Recombination rate (θ) is necessary for calculation of the LRs when linked markers on the same chromosome are used to analyze relationship. In comparing θ s computed from our family samples with those estimated from European families, such as Germans , Italian , Greenlanders, Danes, and Somalis , and European and Asian , our results are in agreement with European and Asian , German except DXS8377‐DXS7423, Italian except DXS6809‐DXS6789, Greenlanders, Danes, and Somalis except DXS10079‐DXS10074. But the θ s of DXS7132‐DXS10079, DXS10079‐DXS10074, DXS10074‐DXS10075, DXS6809‐DXS6789, and DXS7424‐DXS101 from HapMap are below the lower limit of 95% CIs of our studied results.…”

Section: Discussionsupporting

confidence: 83%

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X chromosomal recombination—A family study analyzing 26 X‐STR Loci in Chinese Han three‐generation pedigrees

Liu

et al. 2013

Electrophoresis

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The aim of this study is to investigate genetic linkage and recombination fractions of 26 X chromosomal (X-STR) loci with two multiplex PCR systems (MX15-STR and MX12-STR). MX15-STR (including DXS7133, DXS6801, DXS981, DXS6809, DXS7424, DXS6789, DXS9898, DXS7132, GATA165B12, DXS101, DXS10075, DXS6800, GATA31E08, DXS10074, and DXS10079) and MX12-STR (including DXS6854, DXS9902, DXS6800, GATA172D05, DXS7423, HPRTB, DXS6807, DXS6803, DXS6804, DXS6799, DXS8378, and DXS8377) were successful analyzed on 206 two-generation families with two or more children and 33 three-generation families with 72 grandsons. Segregation analysis and calculation of recombination fractions between pairs of markers were performed. Linkage analysis of pairs of markers showed that there existed significant linkage (maximum LOD scores >2.0) within the physical distance of 48.5 Mb. Recombination events could be observed within the clusters of closed linked makers spanning <1.0 Mb. These results indicate that close cluster X-STRs used and recombination fractions of the selected loci will be very useful for biostatistical calculations in complex kinship analysis.

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Section: Discussionsupporting

confidence: 83%

“…Differences of X‐STR recombination rates among populations may be different. Nothnagel et al have suggested that recombination fractions derived from the direct observation of STR transmissions in families were superior to those derived from HapMap.…”

Section: Discussionmentioning

confidence: 99%

X chromosomal recombination—A family study analyzing 26 X‐STR Loci in Chinese Han three‐generation pedigrees

Liu

et al. 2013

Electrophoresis

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“…This analysis also revealed that there were no significant differences between the estimates based on a mutation rate of 0.0001 (N = 14 generations, range 7–24, CI = 95%), as suggested by Lesca et al [35], or a mutation rate of 0.00232 (N = 11 generations, range 6–21, CI = 95%), as suggested by Nothnagel et al [36]. There was also no significant difference in the result when employing the stepwise or equal methods of mutation (data not shown).…”

Section: Resultssupporting

confidence: 54%

Fabry disease: Evidence for a regional founder effect of the GLA gene mutation 30delG in Brazilian patients

Alencar

Netto

Ashton‐Prolla

et al. 2014

Molecular Genetics and Metabolism Reports

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The Fabry disease is caused by mutations in the gene (GLA) that encodes the enzyme α-galactosidase A (α-Gal A). More than 500 pathologic variants of GLA have already been described, most of them are family-specific. In southern Brazil, a frequent single-base deletion (GLA 30delG) was identified among four families that do not recognize any common ancestral. In order to investigate the history of this mutation (investigate the founder effect, estimate the mutation age and the most likely source), six gene-flanking microsatellite markers of the X chromosome on the mutation carriers and their parents, 150 individuals from the same population and 300 individuals that compose the Brazilian parental populations (Europeans, Africans and Native Americans) were genotyped. A common haplotype to the four families was identified and characterized as founder. The age was estimated with two statistics software (DMLE 2.2 and ESTIAGE) that agreed with 11 to 12 generations old. This result indicates that the mutation GLA 30delG was originated from a single event on the X chromosome of a European immigrant, during the southern Brazil colonization between 1710 and 1740.

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“…The analysis of the 12 X-STR markers revealed an identical paternal haplotype in the alleged full sisters and a very strong LR value (>3 Â 10 8 ) computed following Buckleton et al [20] for the hypothesis of shared paternity. Nevertheless, mother and the disputed daughter shared the same allelic pattern for the DXS10148 not allowing to discriminate the paternal allele for this locus considering also that the evidence for recombination within the linkage group I for DXS10135, DXS10148 has been estimated to be around 1% [3]. Typing of the putative biological father of the questioned sister will be investigated.…”

Section: Resultsmentioning

confidence: 99%

“…Due to lacking of available Italian population data, for our caseworks usually published haplotype frequencies from German population are used [2], but in different caseworks we found unreported X-haplotypes despite the large sample size. Accordingly, a recent collaborative multi-center study on 12 forensic X-STR loci highlighted that the most important challenge is to derive sufficiently accurate haplotype frequency estimates for the four linkage groups in different world populations for correct likelihood calculation in kinship testing and proposed that scientists share their data with the forensic genetics community [3]. Up to date, 55 X-STR markers for forensic applications on the Xchromosome web site (http://www.chrx-str.org) are characterized, but the only submitted data are from German, Chinese Han, Japanese and Ghanaian populations [4].…”

Section: Introductionmentioning

confidence: 99%

Expanding X-chromosomal forensic haplotype frequencies database: Italian population data of four linkage groups

Bini¹,

Riccardi²,

Ceccardi³

et al. 2015

Forensic Science International: Genetics

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

Cited by 66 publications

References 27 publications

X chromosomal recombination—A family study analyzing 26 X‐STR Loci in Chinese Han three‐generation pedigrees

X chromosomal recombination—A family study analyzing 26 X‐STR Loci in Chinese Han three‐generation pedigrees

Fabry disease: Evidence for a regional founder effect of the GLA gene mutation 30delG in Brazilian patients

Expanding X-chromosomal forensic haplotype frequencies database: Italian population data of four linkage groups

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