title: Genome-wide screening of severe male factor infertile patients using BAC-array comparative genomic hybridization (CGH).
abstract: Male factor infertility is present in up to 50% of infertile couples, making it increasingly important in their treatment. Although most research into the genetics of male infertility has focused on the Y chromosome, male factor infertility may result from other genetic factors. We utilized the whole genome array comparative genomic hybridization (CGH) to identify novel genetic candidate associated with severely impaired spermatogenesis. We enrolled 37 patients with severe male factor infertility, defined as severe nonobstructive type oligozoospermia (≤ 5 × 10(6)/ml) or azoospermia, and 10 controls. Routine cytogenetic analyses, Yq microdeletion PCR test and whole genome bacterial artificial chromosome (BAC)-array CGH were performed. Array CGH results showed no specific gains or losses related to impaired spermatogenesis other than Yq microdeletions, and there were no novel candidate genetic abnormalities in the patients with severe male infertility. However, Yq microdeletions were detected in 10 patients. Three showed a deletion in the AZFb-c region and the other 7 had deletions in the AZFc region. Although we could not identify novel genetic regions specifically associated with male infertility, whole genome array CGH analysis with higher resolution including larger numbers of patients may be able to give an opportunity for identifying new genetic markers for male infertility.
authors: Department of Urology, Fertility Center of CHA Gangnam Medical Center, CHA University, Seoul 135-913, Republic of Korea.
authors: Seung-Hun
authors: SH
authors: Song
authors: Sung Han
authors: SH
authors: Shim
authors: Jeong Kyoon
authors: JK
authors: Bang
authors: Ji Eun
authors: JE
authors: Park
authors: Se Ra
authors: SR
authors: Sung
authors: Dong Hyun
authors: DH
authors: Cha
mesh_terms: D000328:Adult; D053713:Azoospermia / Q000235:genetics; D016022:Case-Control Studies; D002872:Chromosome Deletion; D022202:Chromosomes, Artificial, Bacterial / Q000235:genetics; D041322:Chromosomes, Human, Y / Q000235:genetics; D055028:Comparative Genomic Hybridization; D005819:Genetic Markers; D055106:Genome-Wide Association Study; D006801:Humans; D007248:Infertility, Male / Q000235:genetics*; D008297:Male; D009845:Oligospermia / Q000235:genetics; D016133:Polymerase Chain Reaction; D011446:Prospective Studies; D012729:Sex Chromosome Aberrations; D058533:Sex Chromosome Disorders of Sex Development / Q000235:genetics; D055815:Young Adult
chemical_list: D005819:Genetic Markers