Sequence analysis of two de novo mutation alleles at the Y-STR locus

Abstract 

We have performed haplotyping of 16 Y-STRs (giving 17 PCR products): DYS19, DYS389I, DYS389II, DYS390, DYS391, DYS392, DYS393, DYS385, DYS437, DYS438, DYS439, DYS448, DYS456, DYS458, DYS635, and Y GATA H4 in 47 biological paternity cases (father and son) in Japan. We have detected two unusual alleles at the DYS439 and DYS448 locus in two paternity trio cases. In one case, DYS439 allele 15 of the son was found not to derive from the father (allele 14). In the other case, the father (allele 18) and the son (allele 17) shared no bands at DYS448. Sequencing showed that the son gained a single unit (GATA) at DYS439 in one case and the son losed 1 unit (AGAGAT) at DYS448 in the other case.

Keywords: Short tandem repeat (STR), Sequence, DYS439, DYS448, Paternity testing, Mutation