Abstract

This study was carried out to investigate the genetic polymorphism of nine short tandem repeat (STR) loci including D2S1772, D6S1043, D7S3048, D8S1132, D11S2368, D12S391, D13S325, D18S1364 and D22GATA198B05 in Chinese Han population of Henan province and to assess its value in forensic science. Genomic DNA was extracted by means of phenol-chloroform from 212 blood samples of unrelated healthy individuals in Henan Han population, and alleles were amplified with STRtyper-10F/G kit. The genotype distributions were in accordance with Hardy-Weinberg equilibrium (p>0.05). New core sequences were found in D2S1772, D7S3048, and D22GATA198B05 STR loci in Chinese Han population of Henan province, which were different from those of other populations. Two single-nucleotide polymorphism (SNP) sites were found at locus D18S1364 and D22GATA198B05, respectively. The heterozygosity (H), power of discrimination (PD), probability of exclusion (PE) and polymorphism information contents (PIC) ranged from 0.778 to 0.887, 0.928 to 0.967, 0.559 to 0.769 and 0.77 to 0.86, respectively. The total PD and combined PE of nine STR loci reached 0.999999999999363 and 0.999951, respectively. The nine STR loci are highly polymorphic in Chinese Han population of Henan province and they may be of great value in forensic science and human population genetics.

Key words: short tandem repeat, repeat motif, genetic polymorphism, Han population, forensic genetics.

Abbreviation

STR, short tandem repeat; H, heterozygosity; PIC, polymorphism information content, CODIS, combined DNA index system; PD, power of discrimination; PE,probability of exclusion; SNP, single-nucleotide polymorphism; PCR, polymerase chain reaction; TPI, typical paternity index.