title: [Screening and clinical phenotype analysis of microdeletions of azoospermia factor region on Y chromosome in 1011 infertile men].
abstract: OBJECTIVE
  To investigate the prevalence and subtypes of microdeletions in azoospermia factor (AZF) region in infertile men from Sichuan in order to correlate genotypes with phenotypes.
  
  
  METHODS
  Multiplex-PCR was used to detect sequence tagged sites (STS) of AZF microdeletions in 1011 infertile men including 713 cases of non-obstructive azoospermia and 298 cases of severe oligospermia.
  
  
  RESULTS
  The overall prevalence of microdeletions was 10.48% (106/1011), and the deletion rates were 11.08% (79/713) in non-obstructive azoospermia and 9.06% (27/298) in severe oligospermia. Complete AZFa or AZFb deletions were associated with azoospermia, whereas AZFc deletion (60.38%) was the most frequent deletion. The deletions were associated with variable spermatogenic phenotypes, and 37.50% of the patients with a deletion had sperms in the ejaculate. A mild decline in sperm concentration was found in two cases with partial AZFb deletion and one case with partial AZFb-c deletion.
  
  
  CONCLUSIONS
  Deletions of the AZFc region were most commonly found in our patients. All cases with complete AZFa or AZFb deletions and a proportion of cases with AZFc deletion were associated with azoospermia. Our study has provided more insight into the genotype-phenotype correlation, and confirmed that Yq microdeletion screening has a significant value for the diagnosis for male infertility.
authors.affiliation: Institute of Medical Genetics, Sichuan University, Chengdu, Sichuan, People's Republic of China.
authors.forename: Li
authors.initials: L
authors.lastname: Fu
authors.forename: Xian-ping
authors.initials: XP
authors.lastname: Ding
authors.forename: Meng-jie
authors.initials: MJ
authors.lastname: Shen
authors.forename: Chuang
authors.initials: C
authors.lastname: Li
authors.forename: Shuang-shuang
authors.initials: SS
authors.lastname: Nie
authors.forename: Qiang
authors.initials: Q
authors.lastname: Quan
mesh_terms: D000328:Adult; D053713:Azoospermia / Q000235:genetics*; D002872:Chromosome Deletion; D041322:Chromosomes, Human, Y; D056726:Genetic Association Studies / Q000379:methods; D006801:Humans; D007248:Infertility, Male / Q000235:genetics*; D008297:Male; D010641:Phenotype; D055815:Young Adult