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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...

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Autores principales: Suganthi, Ramaswamy, Vijesh, VV, Jayachandran, Sanjay, Fathima Benazir, Jahangir Ali
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Research and Clinical Center for Infertility 2013
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3943221/
https://www.ncbi.nlm.nih.gov/pubmed/24639749
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author Suganthi, Ramaswamy
Vijesh, VV
Jayachandran, Sanjay
Fathima Benazir, Jahangir Ali
author_facet Suganthi, Ramaswamy
Vijesh, VV
Jayachandran, Sanjay
Fathima Benazir, Jahangir Ali
author_sort Suganthi, Ramaswamy
collection PubMed
description 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.
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spelling pubmed-39432212014-03-17 Multiplex PCR based screening for microdeletions in azoospermia factor region of Y chromosome in azoospermic and severe oligozoospermic south Indian men Suganthi, Ramaswamy Vijesh, VV Jayachandran, Sanjay Fathima Benazir, Jahangir Ali Iran J Reprod Med 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. Research and Clinical Center for Infertility 2013-03 /pmc/articles/PMC3943221/ /pubmed/24639749 Text en This is an Open Access article distributed under the terms of the Creative Commons Attribution License, (http://creativecommons.org/licenses/by/3.0/) which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Suganthi, Ramaswamy
Vijesh, VV
Jayachandran, Sanjay
Fathima Benazir, Jahangir Ali
Multiplex PCR based screening for microdeletions in azoospermia factor region of Y chromosome in azoospermic and severe oligozoospermic south Indian men
title Multiplex PCR based screening for microdeletions in azoospermia factor region of Y chromosome in azoospermic and severe oligozoospermic south Indian men
title_full Multiplex PCR based screening for microdeletions in azoospermia factor region of Y chromosome in azoospermic and severe oligozoospermic south Indian men
title_fullStr Multiplex PCR based screening for microdeletions in azoospermia factor region of Y chromosome in azoospermic and severe oligozoospermic south Indian men
title_full_unstemmed Multiplex PCR based screening for microdeletions in azoospermia factor region of Y chromosome in azoospermic and severe oligozoospermic south Indian men
title_short Multiplex PCR based screening for microdeletions in azoospermia factor region of Y chromosome in azoospermic and severe oligozoospermic south Indian men
title_sort multiplex pcr based screening for microdeletions in azoospermia factor region of y chromosome in azoospermic and severe oligozoospermic south indian men
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3943221/
https://www.ncbi.nlm.nih.gov/pubmed/24639749
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