Journal of Assisted Reproduction and Genetics

, Volume 28, Issue 8, pp 731–736 | Cite as

An association study of SPO11 gene single nucleotide polymorphisms with idiopathic male infertility in Chinese Han population

  • Jing Zhang
  • Dang-xia Zhou
  • Hai-xu Wang
  • Zhao Tian



To investigate the incidence of single nucleotide polymorphisms in SPO11 and its influence in idiopathic male infertility in China.


Infertility factors such as anatomical, immunological and infectious disorders were examined in selecting patients with idiopathic male infertility. Routine semen analysis was performed. DNA was isolated from peripheral blood of the selected patients and control group, and five SNP loci of SPO11 were genotyped using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) analysis. Furthermore, nucleotide sequences were sequenced.


SNP5 (rs28368082) in the exon7 of SPO11 was identified to be associated with idiopathic male infertility (P = 0.037 for differences across genotypes). A transversion (C5679T) was detected in eight patients (11.0%), which led arginine change into tryptophan. And this variant was not found in the remaining patients and controls.


A SPO11 SNP was associated with idiopathic male reproduction, suggested that SPO11 might has an effect on premorbid functioning, which increase susceptibility for idiopathic male reproduction. Further research on this issue is still necessary.


Idiopathic male infertility Single nucleotide polymorphisms (SNP) Polymerase chain reaction–restriction fragment length polymorphism (PCR-RFLP) SPO11 



We would like to thank the experimental center of postgraduate of Xi’an Jiaotong University and Reproductive Medical Center of Xi’an Jiaotong University. We especially thank Dr Jiang-Hua Lai for practical support.

Financial support

This study was supported by grants from the National Natural Science Fund of China (30700654), Shaanxi Sci-Technical Development Project (2005K15-G2) and the Graduate Innovation Fund of Xian Jiaotong University (2010PG001).


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Copyright information

© Springer Science+Business Media, LLC 2011

Authors and Affiliations

  • Jing Zhang
    • 1
  • Dang-xia Zhou
    • 1
    • 4
  • Hai-xu Wang
    • 2
  • Zhao Tian
    • 3
  1. 1.Department of Pathology, Medical SchoolXi’an Jiaotong UniversityXi’anChina
  2. 2.Reproductive Medical CenterXi’an Jiaotong UniversityXi’anChina
  3. 3.Department of Forensic Science, Medical SchoolXi’an Jiaotong UniversityXi’anChina
  4. 4.Key Laboratory of Environment and Genes Related to Diseases, Ministry of EducationXi’ anChina

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