title: Analysis of DAZL SNP260 and SNP386 in infertile Chinese males using multi-analyte suspension array.
abstract: 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.
authors.affiliation: Key Laboratory of Birth Defects and Reproductive Health of The National Health and Family Planning Commission (Chongqing Population and Family Planning Science and Technology Research Institute), Chongqing 400020, P.R. China.
authors.forename: Yijian
authors.initials: Y
authors.lastname: Zhu
authors.affiliation: Key Laboratory of Birth Defects and Reproductive Health of The National Health and Family Planning Commission (Chongqing Population and Family Planning Science and Technology Research Institute), Chongqing 400020, P.R. China.
authors.forename: Mingfu
authors.initials: M
authors.lastname: Ma
authors.affiliation: Key Laboratory of Birth Defects and Reproductive Health of The National Health and Family Planning Commission (Chongqing Population and Family Planning Science and Technology Research Institute), Chongqing 400020, P.R. China.
authors.forename: Ling
authors.initials: L
authors.lastname: Wan
authors.affiliation: Key Laboratory of Birth Defects and Reproductive Health of The National Health and Family Planning Commission (Chongqing Population and Family Planning Science and Technology Research Institute), Chongqing 400020, P.R. China.
authors.forename: Danyan
authors.initials: D
authors.lastname: Zhang
authors.affiliation: Key Laboratory of Birth Defects and Reproductive Health of The National Health and Family Planning Commission (Chongqing Population and Family Planning Science and Technology Research Institute), Chongqing 400020, P.R. China.
authors.forename: Letian
authors.initials: L
authors.lastname: Zhao
authors.affiliation: Key Laboratory of Birth Defects and Reproductive Health of The National Health and Family Planning Commission (Chongqing Population and Family Planning Science and Technology Research Institute), Chongqing 400020, P.R. China.
authors.forename: Li
authors.initials: L
authors.lastname: Wei
authors.affiliation: Key Laboratory of Birth Defects and Reproductive Health of The National Health and Family Planning Commission (Chongqing Population and Family Planning Science and Technology Research Institute), Chongqing 400020, P.R. China.
authors.forename: Lianbing
authors.initials: L
authors.lastname: Li
mesh_terms: D000483:Alleles; D044466:Asian People / Q000235:genetics*; D016022:Case-Control Studies; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005838:Genotype; D006801:Humans; D007248:Infertility, Male / Q000235:genetics*; D008297:Male; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D016601:RNA-Binding Proteins / Q000235:genetics*
chemical_list: C101358:DAZL protein, human; D016601:RNA-Binding Proteins