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Detection of Partial Deletions of Y-chromosome AZFc in Infertile Men Using the Multiplex Ligation-dependent Probe Amplification Assay

BACKGROUND: In recent studies, partial deletions of the azoospermia factor c region (AZFc) on the Y-chromosome have been detected in males with infertility problems. However, there has been a lot of debate about their significance. In order to study such deletions, a simple but accurate method for t...

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Autores principales: Bunyan, David J., Callaway, Jonathan L.A., Laddach, Nadja
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Avicenna Research Institute 2012
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3719355/
https://www.ncbi.nlm.nih.gov/pubmed/23926543
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author Bunyan, David J.
Callaway, Jonathan L.A.
Laddach, Nadja
author_facet Bunyan, David J.
Callaway, Jonathan L.A.
Laddach, Nadja
author_sort Bunyan, David J.
collection PubMed
description BACKGROUND: In recent studies, partial deletions of the azoospermia factor c region (AZFc) on the Y-chromosome have been detected in males with infertility problems. However, there has been a lot of debate about their significance. In order to study such deletions, a simple but accurate method for their detection was applied in this study. METHODS: We present data obtained from the Multiplex Ligation-dependent Probe Amplification (MLPA) assay using a new Y-chromosome-specific MLPA probemix (P360) which allows the easy detection of partial AZFc deletions. RESULTS: Partial AZFc deletions were detected in 8% of our cohort of previously mutation-negative infertile males (and 0% of the fertile control cohort). CONCLUSION: These results provide further evidence of the causality of partial AZFc deletions. None of the partial AZFc deletions were detectable by the standard multiplex PCR method, demonstrating the advantage of the MLPA method.
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spelling pubmed-37193552013-08-07 Detection of Partial Deletions of Y-chromosome AZFc in Infertile Men Using the Multiplex Ligation-dependent Probe Amplification Assay Bunyan, David J. Callaway, Jonathan L.A. Laddach, Nadja J Reprod Infertil Short Communication BACKGROUND: In recent studies, partial deletions of the azoospermia factor c region (AZFc) on the Y-chromosome have been detected in males with infertility problems. However, there has been a lot of debate about their significance. In order to study such deletions, a simple but accurate method for their detection was applied in this study. METHODS: We present data obtained from the Multiplex Ligation-dependent Probe Amplification (MLPA) assay using a new Y-chromosome-specific MLPA probemix (P360) which allows the easy detection of partial AZFc deletions. RESULTS: Partial AZFc deletions were detected in 8% of our cohort of previously mutation-negative infertile males (and 0% of the fertile control cohort). CONCLUSION: These results provide further evidence of the causality of partial AZFc deletions. None of the partial AZFc deletions were detectable by the standard multiplex PCR method, demonstrating the advantage of the MLPA method. Avicenna Research Institute 2012 /pmc/articles/PMC3719355/ /pubmed/23926543 Text en Copyright © 2012 Avicenna Research Institute http://creativecommons.org/licenses/by-nc/3.0/ This work is licensed under a Creative Commons Attribution-NonCommercial 3.0 Unported License which allows users to read, copy, distribute and make derivative works for non-commercial purposes from the material, as long as the author of the original work is cited properly.
spellingShingle Short Communication
Bunyan, David J.
Callaway, Jonathan L.A.
Laddach, Nadja
Detection of Partial Deletions of Y-chromosome AZFc in Infertile Men Using the Multiplex Ligation-dependent Probe Amplification Assay
title Detection of Partial Deletions of Y-chromosome AZFc in Infertile Men Using the Multiplex Ligation-dependent Probe Amplification Assay
title_full Detection of Partial Deletions of Y-chromosome AZFc in Infertile Men Using the Multiplex Ligation-dependent Probe Amplification Assay
title_fullStr Detection of Partial Deletions of Y-chromosome AZFc in Infertile Men Using the Multiplex Ligation-dependent Probe Amplification Assay
title_full_unstemmed Detection of Partial Deletions of Y-chromosome AZFc in Infertile Men Using the Multiplex Ligation-dependent Probe Amplification Assay
title_short Detection of Partial Deletions of Y-chromosome AZFc in Infertile Men Using the Multiplex Ligation-dependent Probe Amplification Assay
title_sort detection of partial deletions of y-chromosome azfc in infertile men using the multiplex ligation-dependent probe amplification assay
topic Short Communication
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3719355/
https://www.ncbi.nlm.nih.gov/pubmed/23926543
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