title: [Multiplex ligation-dependent probe amplification for detecting AZF microdeletions on the Y chromosome in infertile men with azoospermia or severe oligozoospermia].
abstract: OBJECTIVE
  To investigate the possibility of applying multiplex ligation-dependent probe amplification (MLPA) to the detection of azoospermia factor (AZF) microdeletion on the Y chromosome in infertile men with azoospermia or severe oligozoospermia.
  
  
  METHODS
  DNA samples were obtained from 147 azoospermia or severe oligozoospermia patients and 154 normal controls. After denatured at 95 degrees C, the samples were hybridized to the specific probes designed for the AZF region. With the ligase, the hybrid products were amplified by a pair of universal primers labeled with FAM fluorescence, and then separated by capillary electrophoresis for data analysis. Meanwhile all the samples were subjected to multiplex-PCR (mPCR) analysis for sequence-tagged sites (STS) in the AZF region.
  
  
  RESULTS
  STS deletion was detected in 22 (15.0%) of the 147 patients but not in the normal controls. By MLPA, 40 (27.2%) of the patients were found with specific probe omission in the AZF region, as compared with 20 cases in the control group.
  
  
  CONCLUSIONS
  Compared with mPCR, MLPA has a better sensitivity in detecting AZF microdeletions, and it provides more precise genetic information on the AZF regions, which may contribute to in-depth exploration into the etiological mechanism of impaired spermatogenesis.
authors.affiliation: Central Laboratory, Xiamen Maternity and Child Health Care Hospital, Xiamen, Fujian 361003, China. biozone@163.com
authors.forename: Yu
authors.initials: Y
authors.lastname: Jiang
authors.forename: Wen-Bo
authors.initials: WB
authors.lastname: Wang
authors.forename: Qi-Wei
authors.initials: QW
authors.lastname: Guo
authors.forename: Yan-Wei
authors.initials: YW
authors.lastname: Sha
authors.forename: Hong-Gen
authors.initials: HG
authors.lastname: Ouyang
authors.forename: Yu-Lin
authors.initials: YL
authors.lastname: Zhou
mesh_terms: D000328:Adult; D053713:Azoospermia / Q000235:genetics*; D016022:Case-Control Studies; D002872:Chromosome Deletion; D041322:Chromosomes, Human, Y / Q000235:genetics; D015342:DNA Probes; D056426:Genetic Loci; D006801:Humans; D007248:Infertility, Male; D008297:Male; D021141:Nucleic Acid Amplification Techniques / Q000379:methods*; D009845:Oligospermia / Q000235:genetics*; D016133:Polymerase Chain Reaction / Q000379:methods*; D029589:Seminal Plasma Proteins / Q000235:genetics; D016324:Sequence Tagged Sites; D012729:Sex Chromosome Aberrations; D058533:Sex Chromosome Disorders of Sex Development / Q000235:genetics*; D055815:Young Adult
chemical_list: D015342:DNA Probes; D029589:Seminal Plasma Proteins