Ion Torrent PGM sequencing for detection of Y chromosome microdeletion in 87 cases of azoospermia
OBJECTIVE: To explore the feasibility of Ion Torrent PGM sequencing in detection of Y chromosome microdeletion.
METHODS: We enrolled 87 infertility patients with non-obstructive azoospermia (NOA) in this study and analyzed their routine semen parameters, reproductive hormone levels and chromosomal karyotypes. We detected Y chromosome microdeletion in the patients by Ion Torrent PGM sequencing and multiplex PCR, and compared the detection rates between the two methods.
RESULTS: Ion Torrent PGM sequencing achieved a significantly higher detection rate of Y chromosome microdeletion than multiplex PCR (49.4% vs 12.6%, P < 0.05). The cases of AZF deletion detected by Ion Torrent PGM sequencing included all those detected by multiplex PCR, and the deletion sites were completely consistent. In addition, 14 male infertility-related gene mutations were detected in 24 of the 87 patients, with a total positive rate of 27.59%.
CONCLUSION: Ion Torrent PGM sequencing can significantly improve the detection rate of Y chromosome microdeletion in infertility patients with NOA, detect a variety of male infertility-related gene mutations, and therefore contribute to the diagnosis of azoospermia.
| Medienart: |
Artikel |
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| Erscheinungsjahr: |
2023 |
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| Erschienen: |
2023 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:29 |
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| Enthalten in: |
Zhonghua nan ke xue = National journal of andrology - 29(2023), 2 vom: 17. Feb., Seite 144-150 |
| Sprache: |
Chinesisch |
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| Beteiligte Personen: |
Song, Chun-Ying [VerfasserIn] |
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| Themen: |
English Abstract |
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| Anmerkungen: |
Date Completed 23.10.2023 Date Revised 23.10.2023 published: Print Citation Status MEDLINE |
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| Förderinstitution / Projekttitel: |
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| PPN (Katalog-ID): |
NLM363396551 |
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| 041 | |a chi | ||
| 100 | 1 | |a Song, Chun-Ying |e verfasserin |4 aut | |
| 245 | 1 | 0 | |a Ion Torrent PGM sequencing for detection of Y chromosome microdeletion in 87 cases of azoospermia |
| 264 | 1 | |c 2023 | |
| 336 | |a Text |b txt |2 rdacontent | ||
| 337 | |a ohne Hilfsmittel zu benutzen |b n |2 rdamedia | ||
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| 500 | |a Date Completed 23.10.2023 | ||
| 500 | |a Date Revised 23.10.2023 | ||
| 500 | |a published: Print | ||
| 500 | |a Citation Status MEDLINE | ||
| 520 | |a OBJECTIVE: To explore the feasibility of Ion Torrent PGM sequencing in detection of Y chromosome microdeletion | ||
| 520 | |a METHODS: We enrolled 87 infertility patients with non-obstructive azoospermia (NOA) in this study and analyzed their routine semen parameters, reproductive hormone levels and chromosomal karyotypes. We detected Y chromosome microdeletion in the patients by Ion Torrent PGM sequencing and multiplex PCR, and compared the detection rates between the two methods | ||
| 520 | |a RESULTS: Ion Torrent PGM sequencing achieved a significantly higher detection rate of Y chromosome microdeletion than multiplex PCR (49.4% vs 12.6%, P < 0.05). The cases of AZF deletion detected by Ion Torrent PGM sequencing included all those detected by multiplex PCR, and the deletion sites were completely consistent. In addition, 14 male infertility-related gene mutations were detected in 24 of the 87 patients, with a total positive rate of 27.59% | ||
| 520 | |a CONCLUSION: Ion Torrent PGM sequencing can significantly improve the detection rate of Y chromosome microdeletion in infertility patients with NOA, detect a variety of male infertility-related gene mutations, and therefore contribute to the diagnosis of azoospermia | ||
| 650 | 4 | |a English Abstract | |
| 650 | 4 | |a Journal Article | |
| 650 | 4 | |a Ion Torrent PGM; Y chromosome microdeletion; azoospermia factor; sequence-tagged site | |
| 700 | 1 | |a Hao, Wei-Ming |e verfasserin |4 aut | |
| 700 | 1 | |a Zhao, Jun |e verfasserin |4 aut | |
| 700 | 1 | |a Meng, Wei-Jing |e verfasserin |4 aut | |
| 700 | 1 | |a Guo, Xing-Ping |e verfasserin |4 aut | |
| 700 | 1 | |a Li, Hong-Xia |e verfasserin |4 aut | |
| 773 | 0 | 8 | |i Enthalten in |t Zhonghua nan ke xue = National journal of andrology |d 2002 |g 29(2023), 2 vom: 17. Feb., Seite 144-150 |w (DE-627)NLM122631390 |x 1009-3591 |7 nnns |
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