title: A simplified gene-specific screen for Y chromosome deletions in infertile men.
abstract: OBJECTIVE
  To test the diagnostic efficiency of a gene-specific, five-marker screening strategy for the detection of Y chromosome deletions.
  
  
  METHODS
  Prospective case study.
  
  
  METHODS
  University genetics laboratory and reproductive clinics.
  
  
  METHODS
  Six hundred twenty-seven infertile men and 212 fertile men.
  
  
  METHODS
  Peripheral blood samples were screened for Y chromosome deletions in a triple-blind fashion using three protocols: protocol I consisted of five gene-specific markers, including USP9Y, DBY, SMCY, RBM1, and DAZ; protocol II included 14 gene-specific markers; and protocol III consisted of six sequence-tagged sites (STSs) markers recommended by EAA/EMQN.
  
  
  METHODS
  Deletion status of Y chromosome genes or sequence-tagged sites.
  
  
  RESULTS
  Protocols I and II identified the same 41 infertile patients with Y deletions. Protocol III identified 38 infertile patients with Y deletions, and all 38 patients were also identified by protocols I and II. One patient with isolated USP9Y deletion and two patients with isolated DBY deletions, as detected by protocols I and II, could not be identified by protocol III.
  
  
  CONCLUSIONS
  We observed mostly consistent results between our protocols and the EAA/EMQN protocol. This gene-specific, five-marker screening panel provides the same diagnostic efficiency as the EAA/EMQN protocol and may be considered an alternative to the EAA/EMQN protocol.
authors.affiliation: Department of Early Childhood Education and Nursery, Chia Nan University of Pharmacy and Science, Tainan, Taiwan.
authors.forename: Yen-Ni
authors.initials: YN
authors.lastname: Teng
authors.forename: Ying-Hung
authors.initials: YH
authors.lastname: Lin
authors.forename: Yung-Chieh
authors.initials: YC
authors.lastname: Tsai
authors.forename: Chao-Chin
authors.initials: CC
authors.lastname: Hsu
authors.forename: Pao-Lin
authors.initials: PL
authors.lastname: Kuo
authors.forename: Yung-Ming
authors.initials: YM
authors.lastname: Lin
mesh_terms: D000328:Adult; D002874:Chromosome Mapping; D041322:Chromosomes, Human, Y; D017931:DNA Primers; D000075364:Deleted in Azoospermia 1 Protein; D005298:Fertility / Q000235:genetics; D005784:Gene Amplification; D056426:Genetic Loci; D005820:Genetic Testing; D006801:Humans; D007248:Infertility, Male / Q000235:genetics*; D008297:Male; D009845:Oligospermia / Q000235:genetics; D016133:Polymerase Chain Reaction; D016601:RNA-Binding Proteins / Q000235:genetics; D012016:Reference Values; D029589:Seminal Plasma Proteins / Q000235:genetics; D017384:Sequence Deletion
chemical_list: C095668:DAZ1 protein, human; D017931:DNA Primers; D000075364:Deleted in Azoospermia 1 Protein; D016601:RNA-Binding Proteins; D029589:Seminal Plasma Proteins