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Letter to the Editor| Volume 16, P205-207, May 2015

Multistep microsatellite mutation in a case of non-exclusion parentage

Published:February 02, 2015DOI:https://doi.org/10.1016/j.fsigen.2015.01.011

      Highlights

      • A non-exclusion paternity case revealed a four or six step mutation at D5S818 locus.
      • The alleles in the mother, the child and the father were 13, 11/13 and 7/13.
      • The combined paternity index of 39 autosomal STRs is up to 2.461 × 109.
      • Genotyping of 16 Y-STR loci in the child matched completely with the father.

      Abstract

      A non-exclusion paternity with multistep mutation in the locus D5S818 was reported. Examination of 39 autosomal short tandem repeats (STR) loci revealed a mismatch of the maternally or paternally transmitted allele in the locus D5S818 in the questioned child. The composition of the alleles of this locus in the mother, the questioned child and the alleged father are 11/13, 7/13 and 13, respectively. The sequence analysis of the regions flanking the locus D5S818 of the mother, the questioned child and the alleged father excluded the possibility of null allele as a cause of the allelic mismatch in the child. The combined paternity index of 39 autosomal STRs is up to 2.461 × 109. Genotyping of sixteen Y-STR loci in the questioned child matched completely with the alleged father. The results prove that the alleged father is the biological father of the questioned child with four-step or six-step microsatellite mutation in the locus D5S818.

      Keywords

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      References

        • Brinkmann B.
        • Klintschar M.
        • Neuhuber F.
        • Huhne J.
        • Rolf B.
        Mutation rate in human microsatellites: influence of the structure and length of the tandem repeat.
        Am. J. Hum. Genet. 1998; 62: 1408-1415
        • Sun H.
        • Liu S.
        • Zhang Y.
        • Whittle M.R.
        Comparison of southern Chinese Han and Brazilian Caucasian mutation rates at autosomal short tandem repeat loci used in human forensic genetics.
        Int. J. Legal Med. 2014; 128: 1-9
        • Singh Negi D.
        • Alam M.
        • Bhavani S.
        • Nagaraju J.
        Multistep microsatellite mutation in the maternally transmitted locus D13S317: a case of maternal allele mismatch in the child.
        Int. J. Legal Med. 2006; 120: 286-292
        • Thacker C.R.
        • Musgrave-Brown E.
        • Ballard D.
        • Syndercombe-Court Y.D.
        A paternal mutation in the penta D STR locus.
        Forensic Sci. Int. Genet. Suppl. S. 2009; 2: 221-223
        • Dauber E.M.
        • Kratzer A.
        • Neuhuber F.
        • Parson W.
        • Klintschar M.
        • Bär W.
        • Mayr W.R.
        Germline mutations of STR-alleles include multi-step mutations as defined by sequencing of repeat and flanking regions.
        Forensic Sci. Int. Genet. 2012; 6: 381-386
        • Lu D.
        • Liu Q.
        • Wu W.
        • Zhao H.
        Mutation analysis of 24 short tandem repeats in Chinese Han population.
        Int. J. Legal Med. 2012; 126: 331-335
        • Wojtas M.
        • Piniewska D.
        • Polańska N.
        • Stawowiak A.
        • Sanak M.
        Mutations of microsatellite autosomal loci in paternity investigations of the Southern Poland population.
        Forensic Sci. Int. Genet. 2013; 7: 389-391
        • Primorac D.
        • Shanfield M.S.
        Application of forensic DNA testing in legal system.
        Croat. Med. J. 2000; 41: 32-46
      1. C.H. Brenner, Mutations in Paternity, (2009) http//www.dna-view.com/mudisc.htm.

      2. American Association of Blood Banks (AABB), Annual report summary for testing in 2003, http://www.aabb.org/sa/facilities/Documents/ptannrpt03.pdf.

        • Ballantyne K.N.
        • Goedbloed M.
        • Fang R.
        • Schaap O.
        • Lao O.
        • Wollstein A.
        • Choi Y.
        • van Duijn K.
        • Vermeulen M.
        • Brauer S.
        • Decorte R.
        • Poetsch M.
        • von Wurmb-Schwark N.
        • de Knijff P.
        • Labuda D.
        • Vézina H.
        • Knoblauch H.
        • Lessig R.
        • Roewer L.
        • Ploski R.
        • Dobosz T.
        • Henke L.
        • Henke J.
        • Furtado M.R.
        • Kayser M.
        Mutability of Y-chromosomal microsatellites: rates, characteristics, molecular bases, and forensic implications.
        Am. J. Hum. Genet. 2010; 87: 341-353
        • Gjertson D.W.
        • Brenner C.H.
        • Baur M.P.
        • Carracedo A.
        • Guidet F.
        • Luque J.A.
        • Lessig R.
        • Mayr W.R.
        • Pascali V.L.
        • Prinz M.
        • Schneider P.M.
        • Morling N.
        ISFG: recommendations on biostatistics in paternity testing.
        Forensic Sci. Int. Genet. 2007; 1: 223-231