Sixty-six Biallelic Genetic Markers on Y chromosome by MALDI-TOF-MS

Abstract

Objective To analyse the genetic polymorphisms of 66 biallelic genetic markers on Y chromosome in Eastern Chinese Han population, and evaluate their values in forensic application. Methods Genotyping of 66 biallelic genetic markers on Y chromosome was studied in 205 unrelated males of Eastern Chinese Han population by multiplex PCR combined matrix-assisted laser desorption/ionization time-of-flight mass spectrometry （MALDI-TOF-MS）. The allele frequencies on the loci to be tested were calculated by direct counting method, and the gene diversity （GD） and haplotype diversity （HD） were calculated by corresponding formulas. The haplotypes of this system were tested by software Arlequin v3.5.2.2 and the comparison of population genetics were analyzed. Results A total of 60 biallelic genetic markers on Y chromosome were polymorphic in males of Eastern Chinese Han population, and the ranges of GD were from 0.038 5 to 0.501 9. Eighty-five different haplotypes were observed and the HD was 0.970 3. The differences of partial SNP loci between the Han population of Eastern China and that of Xinjiang and Guangdong were statistically significance. Conclusion Sixty biallelic genetic markers and the detection system can complementally provide genetic information in kinship testing and individual identification. The MALDI-TOF-MS technology is able to type biallelic genetic markers.

Keywords

• forensic genetics; y chromosome; polymorphism, genetic; matrix-assisted laser desorption-ionization; single nucleotide polymorphism; insertion/deletion