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The association between the two more common genetic causes of spermatogenic failure: a 7-year retrospective study

Chromosomal abnormalities and Y chromosome microdeletions are considered to be the two more common genetic causes of spermatogenic failure. However, the relationship between chromosomal aberrations and Y chromosome microdeletions is still unclear. This study was to investigate the incidence and char...

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Autores principales: Li, Hong-Ge, Fan, Li-Hong, Liu, Bei, Qian, Ye-Qing, Chen, Min, Sun, Yi-Xi, Dong, Min-Yue
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer - Medknow 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7705978/
https://www.ncbi.nlm.nih.gov/pubmed/32362598
http://dx.doi.org/10.4103/aja.aja_13_20
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author Li, Hong-Ge
Fan, Li-Hong
Liu, Bei
Qian, Ye-Qing
Chen, Min
Sun, Yi-Xi
Dong, Min-Yue
author_facet Li, Hong-Ge
Fan, Li-Hong
Liu, Bei
Qian, Ye-Qing
Chen, Min
Sun, Yi-Xi
Dong, Min-Yue
author_sort Li, Hong-Ge
collection PubMed
description Chromosomal abnormalities and Y chromosome microdeletions are considered to be the two more common genetic causes of spermatogenic failure. However, the relationship between chromosomal aberrations and Y chromosome microdeletions is still unclear. This study was to investigate the incidence and characteristics of chromosomal aberrations and Y chromosome microdeletions in infertile men, and to explore whether there was a correlation between the two genetic defects of spermatogenic failure. A 7-year retrospective study was conducted on 5465 infertile men with nonobstructive azoospermia or oligozoospermia. Karyotype analysis of peripheral blood lymphocytes was performed by standard G-banding techniques. Y chromosome microdeletions were screened by multiplex PCR amplification with six specific sequence-tagged site (STS) markers. Among the 5465 infertile men analyzed, 371 (6.8%) had Y chromosome microdeletions and the prevalence of microdeletions in azoospermia was 10.5% (259/2474) and in severe oligozoospermia was 6.3% (107/1705). A total of 4003 (73.2%) infertile men underwent karyotyping; 370 (9.2%) had chromosomal abnormalities and 222 (5.5%) had chromosomal polymorphisms. Karyotype analysis was performed on 272 (73.3%) patients with Y chromosome microdeletions and 77 (28.3%) had chromosomal aberrations, all of which involved sex chromosomes but not autosomes. There was a significant difference in the frequency of chromosomal abnormalities between men with and without Y chromosome microdeletions (P < 0.05).
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spelling pubmed-77059782020-12-04 The association between the two more common genetic causes of spermatogenic failure: a 7-year retrospective study Li, Hong-Ge Fan, Li-Hong Liu, Bei Qian, Ye-Qing Chen, Min Sun, Yi-Xi Dong, Min-Yue Asian J Androl Original Article Chromosomal abnormalities and Y chromosome microdeletions are considered to be the two more common genetic causes of spermatogenic failure. However, the relationship between chromosomal aberrations and Y chromosome microdeletions is still unclear. This study was to investigate the incidence and characteristics of chromosomal aberrations and Y chromosome microdeletions in infertile men, and to explore whether there was a correlation between the two genetic defects of spermatogenic failure. A 7-year retrospective study was conducted on 5465 infertile men with nonobstructive azoospermia or oligozoospermia. Karyotype analysis of peripheral blood lymphocytes was performed by standard G-banding techniques. Y chromosome microdeletions were screened by multiplex PCR amplification with six specific sequence-tagged site (STS) markers. Among the 5465 infertile men analyzed, 371 (6.8%) had Y chromosome microdeletions and the prevalence of microdeletions in azoospermia was 10.5% (259/2474) and in severe oligozoospermia was 6.3% (107/1705). A total of 4003 (73.2%) infertile men underwent karyotyping; 370 (9.2%) had chromosomal abnormalities and 222 (5.5%) had chromosomal polymorphisms. Karyotype analysis was performed on 272 (73.3%) patients with Y chromosome microdeletions and 77 (28.3%) had chromosomal aberrations, all of which involved sex chromosomes but not autosomes. There was a significant difference in the frequency of chromosomal abnormalities between men with and without Y chromosome microdeletions (P < 0.05). Wolters Kluwer - Medknow 2020-05-01 /pmc/articles/PMC7705978/ /pubmed/32362598 http://dx.doi.org/10.4103/aja.aja_13_20 Text en Copyright: ©The Author(s)(2020) http://creativecommons.org/licenses/by-nc-sa/4.0 This is an open access journal, and articles are distributed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 4.0 License, which allows others to remix, tweak, and build upon the work non-commercially, as long as appropriate credit is given and the new creations are licensed under the identical terms.
spellingShingle Original Article
Li, Hong-Ge
Fan, Li-Hong
Liu, Bei
Qian, Ye-Qing
Chen, Min
Sun, Yi-Xi
Dong, Min-Yue
The association between the two more common genetic causes of spermatogenic failure: a 7-year retrospective study
title The association between the two more common genetic causes of spermatogenic failure: a 7-year retrospective study
title_full The association between the two more common genetic causes of spermatogenic failure: a 7-year retrospective study
title_fullStr The association between the two more common genetic causes of spermatogenic failure: a 7-year retrospective study
title_full_unstemmed The association between the two more common genetic causes of spermatogenic failure: a 7-year retrospective study
title_short The association between the two more common genetic causes of spermatogenic failure: a 7-year retrospective study
title_sort association between the two more common genetic causes of spermatogenic failure: a 7-year retrospective study
topic Original Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7705978/
https://www.ncbi.nlm.nih.gov/pubmed/32362598
http://dx.doi.org/10.4103/aja.aja_13_20
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