title: Partial AZFc duplications not deletions are associated with male infertility in the Yi population of Yunnan Province, China.
abstract: OBJECTIVE
  There are many reports on associations between spermatogenesis and partial azoospermia factor c (AZFc) deletions as well as duplications; however, results are conflicting, possibly due to differences in methodology and ethnic background. The purpose of this study is to investigate the association of AZFc polymorphisms and male infertility in the Yi ethnic population, residents within Yunnan Province, China.
  
  
  METHODS
  A total of 224 infertile patients and 153 fertile subjects were selected in the Yi ethnic population. The study was performed by sequence-tagged site plus/minus (STS+/-) analysis followed by gene dosage and gene copy definition analysis. Y haplotypes of 215 cases and 115 controls were defined by 12 binary markers using single nucleotide polymorphism on Y chromosome (Y-SNP) multiplex assays based on single base primer extension technology.
  
  
  RESULTS
  The distribution of Y haplotypes was not significantly different between the case and control groups. The frequencies of both gr/gr (7.6% vs. 8.5%) and b2/b3 (6.3% vs. 8.5%) deletions do not show significant differences. Similarly, single nucleotide variant (SNV) analysis shows no significant difference of gene copy definition between the cases and controls. However, the frequency of partial duplications in the infertile group (4.0%) is significantly higher than that in the control group (0.7%). Further, we found a case with sY1206 deletion which had two CDY1 copies but removed half of DAZ genes.
  
  
  CONCLUSIONS
  Our results show that male infertility is associated with partial AZFc duplications, but neither gr/gr nor b2/b3 deletions, suggesting that partial AZFc duplications rather than deletions are risk factors for male infertility in Chinese-Yi population.
authors.affiliation: State Key Laboratory of Genetic Resources and Evolution, Kunming Institute of Zoology, Chinese Academy of Sciences, Kunming 650223, China; Yunnan Key Laboratory of Fertility Regulation and Minority Eugenics, Yunnan Population and Family Planning Research Institute, Kunming 650021, China; Department of Urology, Kunming General Hospital of Chengdu Military Command, Kunming 650032, China; Haiyuan College, Kunming Medical University, Kunming 650021, China.
authors.forename: Jun-jie
authors.initials: JJ
authors.lastname: Ye
authors.forename: Li
authors.initials: L
authors.lastname: Ma
authors.forename: Li-juan
authors.initials: LJ
authors.lastname: Yang
authors.forename: Jin-huan
authors.initials: JH
authors.lastname: Wang
authors.forename: Yue-li
authors.initials: YL
authors.lastname: Wang
authors.forename: Hai
authors.initials: H
authors.lastname: Guo
authors.forename: Ning
authors.initials: N
authors.lastname: Gong
authors.forename: Wen-hui
authors.initials: WH
authors.lastname: Nie
authors.forename: Shu-hua
authors.initials: SH
authors.lastname: Zhao
mesh_terms: D044466:Asian People / Q000235:genetics; D053713:Azoospermia / Q000235:genetics; D016022:Case-Control Studies; D002681:China; D041322:Chromosomes, Human, Y / Q000235:genetics; D000075364:Deleted in Azoospermia 1 Protein; D005006:Ethnicity / Q000235:genetics; D017353:Gene Deletion; D018628:Gene Dosage; D020440:Gene Duplication; D006239:Haplotypes; D006801:Humans; D007248:Infertility, Male / Q000235:genetics*; D008297:Male; D009687:Nuclear Proteins / Q000235:genetics; D010802:Phylogeny; D020641:Polymorphism, Single Nucleotide; D016601:RNA-Binding Proteins / Q000235:genetics; D016324:Sequence Tagged Sites; D013091:Spermatogenesis / Q000235:genetics
chemical_list: C118459:CDY1 protein, human; C095668:DAZ1 protein, human; D000075364:Deleted in Azoospermia 1 Protein; D009687:Nuclear Proteins; D016601:RNA-Binding Proteins