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Letter to the Editor| Volume 16, P138, May 2015

Three step maternal mutation detected by STR analysis

DOI:https://doi.org/10.1016/j.fsigen.2015.01.004
Three step maternal mutation detected by STR analysis
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      A 3 step maternal mutation was detected by STR amplification in our laboratory. DNA samples were received for routine maternal cell contamination screening in a familial trio. Samples were diluted to a concentration of 1 ng/uL prior to STR analysis using the AmpFℓSTR® Identifiler® PCR Amplification Kit (Thermo Fisher Scientific). Capillary electrophoresis was performed on the amplified products using the ABI 3730 DNA Analyser, with positive control (9947 A), DNA extraction negative and PCR amplification negative controls run in parallel. An internal size standard (LIZ 500) and allelic ladders were run in accordance with manufacturer's specifications. Genotyping was performed using GeneMapper ID v3.2 (Applied Biosystems). The family trio matched at all loci tested except for an inconsistency at D19S433 (Table 1). The fetus in this trio is heterozygous for 10.2 and 12 at this locus and the paternal sample is consistent with this with 12 and 15.2 alleles at this locus. The maternal sample, however, is heterozygous for 13.2 and 15.2. This leads us to suspect a 3 step maternal mutation present at this locus for this familial trio. Enhanced views of this locus can be viewed in Fig. S1.
      Table 1Profile data for the familial trio showing inconsistency at D19S433.
      Locus Father Fetus Mother
      Allele 1 Allele 2 Allele 1 Allele 2 Allele 1 Allele 2
      D8S1179 13 13 13 13 13 13
      D21S11 28 28 28 32.2 28 32.2
      D7S820 8 12 8 8 8 12
      CSF1PO 10 11 11 11 11 11
      D3S1358 17 17 16 17 16 16
      TH01 8 9 8 9.3 6 9.3
      D13S317 8 12 8 8 8 8
      D16S539 11 11 11 11 11 12
      D2S1338 19 22 19 19 19 22
      D19S433* 12 15.2 10.2 12 13.2 15.2
      vWA31 17 18 17 18 17 17
      TPOX 9 9 8 9 8 9
      D18S51 14 15 15 16 15 16
      D5S818 11 13 13 13 11 13
      FGA 21 23 20 21 20 20

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      Article info

      Publication history

      Accepted: January 7, 2015
      Received in revised form: January 6, 2015
      Received: December 23, 2014

      Identification

      DOI: https://doi.org/10.1016/j.fsigen.2015.01.004

      Copyright

      © 2015 Published by Elsevier Inc. All rights reserved.

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