Background: For solving a maternity case, 19 autosomal short tandem repeats (STRs) were amplified using the AmpFlSTR® SinofilerTM kit and PowerPlex® 16 System. Additional 27 autosomal STR loci were analyzed using two domestic kits AGCU 21+1 and STRtyper-10G. The combined maternity index (CMI) was calculated to be 3.3 × 1013, but the putative mother denied that she had given birth to the child. In order to reach an accurate conclusion, further testing of 20 X-chromosomal short tandem repeats (X-STRs), 40 single nucleotide polymorphism (SNP) loci, and mitochondrial DNA (mtDNA) was carried out. Findings: The putative mother and the boy shared at least one allele at all 46 tested autosomal STR loci. But, according to the profile data of 20 X-STR and 40 SNP markers, different genotypes at 13 X-STR loci and five SNP loci excluded maternity. Mitochondrial profiles also clearly excluded the mother as a parent of the son because they have multiple differences. It was finally found that the putative mother is the sister of the biological father. Conclusions: Different kinds of genetic markers needfully supplement the use of autosomal STR loci in case where the putative parent is suspected to be related to the true parent.
Li, L., Lin, Y., Liu, Y., Zhu, R., Zhao, Z., & Que, T. (2015). A case of false mother included with 46 autosomal STR markers. Investigative Genetics, 6(1). https://doi.org/10.1186/s13323-015-0026-y