STR HUMARA Locus Gene and Genotype Frequencies in Han and Bei Populations in China

Abstract

For the purpose of the population genetics study of the HUMARA locus, the allele, and genotype frequencies were determined in two Chinese population samples (Han-101, Bei-113) using PCR, PAGE, and silver staining. Fourteen alleles were found. The size of amplified fragments were 258 bp-315 bp. The observed heterozygosities were 0.83 in the Han population and 0.73 in the Bei population respectively. The expected heterozygosities were 0.91 in the Han population and 0.97 in the Bei population respectively. Both populations meet Hardy-Weinberg expectation, Han population x2 = 17.7206, df = 11, p > 0.05; Bei population x2 = 7.4268, df = 10, p > 0.05. The discrimination power were 0.95 in females and 0.89 in males in the Han population, 0.94 in females and 0.88 in males in the Bei population. Thus, the allelic frequency data can be used in the personal identification and parentage testing in the forensic science practice. The PCR test established in this study is robust and reproducible.

The HumARA genotype is linked to spinal and bulbar muscular dystrophy and some further disease risks and should no longer be used as a DNA marker for forensic purposes

“…As SBMA is a very rare disease, the forensic community, including our group, has ignored this fact and used HumARA as a normal forensic marker for many years [3,9,[13][14][15][16][19][20][21].…”