title: [Important genetic etiology of infertile Chinese males: chromosome abnormality and deletion of DAZ gene copy in the AZFc region of Y chromosome].
abstract: OBJECTIVE
  To investigate the correlation of male infertility with abnormality of chromosomal quantity and construction and with the deletion of DAZ gene copy in the AZFc region of Y chromosome.
  
  
  METHODS
  Included in the study were 247 azoospermic and 206 severe oligozoospermic patients, as well as 210 fertile men as controls. Multi-PCR and PCR-RFLP were used to analyze the deletion of DAZ gene copies in the AZFc region of Y chromosome. Chromosomal quantity and construction were detected by G-band in the 453 patients.
  
  
  RESULTS
  In the azoospermic and severe oligozoospermic patients, the incidences of chromosomal abnormality were 12.6% and 8.3%; the rates of complete DAZ deletion were 7.7% and 11.2%, and the rates of DAZ1/DAZ2 deletion were 7.3% and 4.9% respectively, but no deletion was detected in the controls.
  
  
  CONCLUSIONS
  There is a high frequency of chromosomal abnormality and DAZ gene copy deletion in patients with azoospermia and oligospermia, which suggests that chromosomal abnormality and partial and complete deletion of DAZ gene copy might be important genetic causes of Chinese male infertility.
authors.affiliation: Department of Medical Genetics, West China Hospital, Sichuan University, Chengdu, Sichuan 610041, China.
authors.forename: Yuan
authors.initials: Y
authors.lastname: Yang
authors.forename: Cui-ying
authors.initials: CY
authors.lastname: Xiao
authors.forename: Si-zhong
authors.initials: SZ
authors.lastname: Zhang
authors.forename: Hong-ming
authors.initials: HM
authors.lastname: Cheng
authors.forename: Si-xiao
authors.initials: SX
authors.lastname: Zhang
authors.forename: Ming-kong
authors.initials: MK
authors.lastname: Huang
authors.forename: Li
authors.initials: L
authors.lastname: Lin
mesh_terms: D002681:China / Q000453:epidemiology; D002872:Chromosome Deletion; D041322:Chromosomes, Human, Y / Q000235:genetics*; D000075364:Deleted in Azoospermia 1 Protein; D018628:Gene Dosage; D006801:Humans; D007248:Infertility, Male / Q000453:epidemiology / Q000235:genetics*; D008297:Male; D009845:Oligospermia / Q000453:epidemiology / Q000235:genetics; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D016601:RNA-Binding Proteins / Q000235:genetics*; D012729:Sex Chromosome Aberrations
chemical_list: C095668:DAZ1 protein, human; D000075364:Deleted in Azoospermia 1 Protein; D016601:RNA-Binding Proteins