The aim of the present study was to investigate the association between two single nucleotide polymorphisms (SNPs) and
infertility in Chinese males using multi-analyte
suspension array (
MASA). A total of 196 male patients with
azoospermia or severe
oligospermia (sperm density <5x106/ml, non‑obstructed) who had a normal karyotype and no
azoospermia factor microdeletions were recruited, along with 40 healthy, fertile males as controls. Two SNPs of the deleted in
azoospermia-like (DAZL) gene, SNP260 and SNP386, were genotyped by allele‑specific primer extension (ASPE) combined with
MASA technology. The SNP260A>G and SNP386A>G mutations were found in the males with
infertility. The SNP260, but not the SNP386, mutation was detectable in the control group. The mutation rates in the controls and patients were 2.5 and 3.06% for SNP260, and 0 and 2.04% for SNP386, respectively. A χ2 analysis did not identify any significant differences in the frequency of either mutation between the fertile and infertile males. In conclusion, the combination of ASPE and
MASA methods for SNP genotyping was high‑throughput, accurate and cost‑efficient. The method was applied to detect SNP polymorphisms in the DAZL gene; and neither the A260G nor the A386G polymorphism of DAZL appeared to be involved in
male infertility in the Chinese population.