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Copy-number variations in Y-chromosomal azoospermia factor regions identified by multiplex ligation-dependent probe amplification.

Abstract
Although copy-number variations (CNVs) in Y-chromosomal azoospermia factor (AZF) regions have been associated with the risk of spermatogenic failure (SF), the precise frequency, genomic basis and clinical consequences of these CNVs remain unclear. Here we performed multiplex ligation-dependent probe amplification (MLPA) analysis of 56 Japanese SF patients and 65 control individuals. We compared the results of MLPA with those of conventional sequence-tagged site PCR analyses. Eleven simple and complex CNVs, including three hitherto unreported variations, were identified by MLPA. Seven of the 11 CNVs were undetectable by conventional analyses. CNVs were widely distributed in AZF regions and shared by ~60% of the patients and ~40% of the controls. Most breakpoints resided within locus-specific repeats. The majority of CNVs, including the most common gr/gr deletion, were identified in the patient and control groups at similar frequencies, whereas simple duplications were observed exclusively in the patient group. The results imply that AZF-linked CNVs are more frequent and heterogeneous than previously reported. Non-allelic homologous recombination likely underlies these CNVs. Our data confirm the functional neutrality of the gr/gr deletion in the Japanese population. We also found a possible association between AZF-linked simple duplications and SF, which needs to be evaluated in future studies.
AuthorsKazuki Saito, Mami Miyado, Yoshitomo Kobori, Yoko Tanaka, Hiromichi Ishikawa, Atsumi Yoshida, Momori Katsumi, Hidekazu Saito, Toshiro Kubota, Hiroshi Okada, Tsutomu Ogata, Maki Fukami
JournalJournal of human genetics (J Hum Genet) Vol. 60 Issue 3 Pg. 127-31 (Mar 2015) ISSN: 1435-232X [Electronic] England
PMID25566757 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
Topics
  • Azoospermia (genetics)
  • Chromosome Deletion
  • Chromosome Duplication
  • Chromosomes, Human, Y (genetics)
  • DNA Copy Number Variations
  • Humans
  • Male
  • Models, Genetic
  • Multiplex Polymerase Chain Reaction (methods)
  • Oligospermia (genetics)
  • Recombination, Genetic
  • Risk Factors
  • Spermatogenesis (genetics)

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