A new molecular diagnostic approach to assess Y chromosome microdeletions in infertile men

J Int Med Res. 2012;40(1):237-48. doi: 10.1177/147323001204000124.

Abstract

Objective: A key cause of spermatogenetic failure in infertile males is microdeletions in the azoospermia factor (AZF) regions of the Y chromosome. This study screened for microdeletions in the AZF regions using suspension array technology and compared the results with those from polymerase chain reaction (PCR).

Methods: Patients with spermatogenetic failure (n=507) and healthy control sperm donors (n=100) were recruited. DNA samples were analysed using both multiplex PCR with gel electrophoresis and suspension array technology.

Results: The suspension array method identified 45 infertile males with Y chromosome microdeletions, while none was found in the controls. Amongst the AZF subregions, two cases had deletions in AZFa, three in AZFb, 35 in AZFc, three in AZFbc and two in AZFabc. The results from 507 patients were identical when analysed with either suspension array or multiplex PCR, however suspension array technology offered improved sensitivity, may be more accurate and could give time and cost savings.

Conclusions: Suspension array technology offers a rapid and high-throughput method for Y chromosome microdeletion screening in infertile men.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Azoospermia / complications
  • Azoospermia / genetics
  • Chromosome Deletion
  • Chromosomes, Human, Y / genetics*
  • Electrophoresis, Agar Gel
  • Fluorescence
  • Humans
  • Infertility, Male / complications
  • Infertility, Male / genetics*
  • Male
  • Molecular Diagnostic Techniques / methods*
  • Multiplex Polymerase Chain Reaction
  • Oligospermia / complications
  • Oligospermia / genetics
  • Sex Chromosome Aberrations
  • Sex Chromosome Disorders of Sex Development / complications
  • Sex Chromosome Disorders of Sex Development / genetics*

Supplementary concepts

  • Male sterility due to Y-chromosome deletions