3 research outputs found
Multiplex PCR based screening for microdeletions in azoospermia factor region of Y chromosome in azoospermic and severe oligozoospermic south Indian men
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. Materials and 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. Conclusion: 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