[Twenty Y-STR locus multiplex amplification and genetic polymorphism analysis in Han population in Chaoshan area]

To study genetic polymorphisms of 20 Y-chromosomal short tandem repeats (STR) in Chaoshan Han population, and to evaluate their value in forensic science.

Twenty Y-specific STR loci (DYS434, Y-GATA-A10, Y-GATA-H4, DYS438, DYS439, DYS443, DYS444, DYS446, DYS447, DYS448, DYS456, DYS458, DYS460, DYS520, DYS531, DYS557, DYS622, DYS630, DYS635 and DYS709) were amplified by using three fluorescence-labeled multiplex PCR systems and were analyzed by ABI310 genetic analyzer. One hundred and fifty-eight unrelated male individuals of Han population in Chaoshan area were investigated to determine the distribution of allele frequencies and haplotype.

The Y-STR multiplexes developed had followed the published nomenclature and ISFG guidelines for STR analysis. Gene diversity ranged from 0.2506 at DYS434 to 0.8034 at DYS447. A total of 157 different haplotypes were observed, and among these, 156 were unique, while 1 was found for two times. The haplotype diversity value calculated from all 20 loci combined was 0.999998. None of Y-STR allele mutation was observed in the 30 father/ son pairs confirmed by autosomal STR analysis.

The results indicate that the 20 Y-STR loci are highly polymorphic and fathership genealogy inheritance are stable. The three fluorescence-labeled multiplex amplification systems that we constructed are suitable for forensic individual identification and paternity testing in Chaoshan area.