Multistep microsatellite mutation in the maternally transmitted locus D13S317: a case of maternal allele mismatch in the child

Examination of a case of a paternity dispute with 17 autosomal short tandem repeats (STR) loci revealed a mismatch of the maternally transmitted allele at the locus D13S317 in the questioned child. The composition of the alleles of this locus in the mother, questioned child and suspected father was 8/8, 11/11 and 8/11, respectively. The sequence analysis of the regions flanking the locus D13S317 and peak height measurements of the paternal, maternal and child alleles at this locus excluded the possibility of null allele as a cause of the allelic mismatch inherited by the child. The results suggested expansion of the microsatellite repeat motif, TATC by three repeat units as a probable cause for the allelic mismatch in the child. This is a rare case of maternally transmitted multistep microsatellite mutation reported for the first time for this locus in the forensic DNA analysis. The mutation rate at D13S317 locus in maternal and paternal meiosis was 0.04 and 0.14%, respectively, and overall mutation rate was 0.15%. The probability of maternity and paternity were 0.999999 and 0.999999, respectively, for all the 17 autosomal STR loci analyzed. Furthermore, the sequence of two hypervariable regions of mitochondrial DNA, HV1 and HV2 and the maternal alleles of six X chromosome STR loci in the questioned child matched completely with the mother. These results conclusively proved that the mother and suspected father are the biological parents of the questioned child.