title: Multiplex PCR based screening for microdeletions in azoospermia factor region of Y chromosome in azoospermic and severe oligozoospermic south Indian men.
abstract: BACKGROUND
  Y chromosomal microdeletion is an important genetic disorder, which may arise due to intrachromosomal recombination between homologous sequences in the male specific region of the human Y chromosome. It is frequently associated with the quantitative reduction of sperm. The screening for Y chromosomal microdeletions has a great clinical value.
  
  
  OBJECTIVE
  To develop a sequence tagged site (STS) based multiplex PCR protocol, which could be specific for the rapid detection of AZF deletions and thereby estimating the frequency of AZF sub deletions in infertile South Indian men.
  
  
  METHODS
  In the current study, PCR based Y chromosomal microdeletion screening analysis was performed in 75 men including 30 non-obstructive azoospermic men, 20 severe oligozoospermic, and 25 normozoospermic fertile men (controls) using 15 known STS primer pairs mapped within the AZF locus. Deletion frequency was estimated after successful PCR amplification.
  
  
  RESULTS
  We designed and optimized a STS based multiplex PCR protocol, which could be helpful for the clinicians to detect the Y chromosomal deletions rapidly and specifically. In our study, we estimated an overall deletion frequency of 36%. Among these 12 (40%) were azoospermic and 6 (30%) were oligozoospermic. No microdeletions were observed in normozoospermic fertile men.
  
  
  CONCLUSIONS
  Our Study emphasizes the fact that Y chromosomal microdeletion screening tests are unavoidable in the workup of idiopathic male infertility. Mandatory screening for Y deletions should be done in all azoospermic and severe oligozoospermic patients before undergoing assisted reproductive technology.
authors.affiliation: Department of Biotechnology, Dr. G. R. Damodaran College of Sciences, Coimbatore, 641014, India.
authors.forename: Ramaswamy
authors.initials: R
authors.lastname: Suganthi
authors.affiliation: Department of Biotechnology, Dr. G. R. Damodaran College of Sciences, Coimbatore, 641014, India.
authors.forename: Vv
authors.initials: V
authors.lastname: Vijesh
authors.affiliation: Department of Biotechnology, Dr. G. R. Damodaran College of Sciences, Coimbatore, 641014, India.
authors.forename: Sanjay
authors.initials: S
authors.lastname: Jayachandran
authors.affiliation: Department of Biotechnology, Dr. G. R. Damodaran College of Sciences, Coimbatore, 641014, India.
authors.forename: Jahangir Ali
authors.initials: JA
authors.lastname: Fathima Benazir
keywords: AZF region; Male infertility; Multiplex PCR; Y chromosomal microdeletions