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.
|Allele 1||Allele 2||Allele 1||Allele 2||Allele 1||Allele 2|
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Accepted: January 7, 2015
Received in revised form: January 6, 2015
Received: December 23, 2014
© 2015 Published by Elsevier Inc. All rights reserved.