Complex cytogenetic and molecular-genetic analysis of males with spermatogenesis failure
The chromosomal anomalies, microdeletions of AZF region of Y-chromosome and CFTR gene mutations have been studied among 80 infertile men with idiopathic spermatogenetic failure: 36 (45 %) patients with aspermia, 19 (24 %) patients with azoospermia and 25 (31 %) patients with severe oligoasthenoterat...
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Інститут клітинної біології та генетичної інженерії НАН України
2010
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| Series: | Цитология и генетика |
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| Cite this: | Complex cytogenetic and molecular-genetic analysis of males with spermatogenesis failure / N. Huleyuk, D. Zastavna, M. Tyrkus , H. Makukh, S. Gavrylyshyn, M. Kurpisz // Цитология и генетика. — 2010. — Т. 44, № 5. — С. 51-56. — Бібліогр.: 31 назв. — англ. |
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oai:nasplib.isofts.kiev.ua:123456789-668072025-02-23T17:35:42Z Complex cytogenetic and molecular-genetic analysis of males with spermatogenesis failure Комплекс цитогенетических и молекулярно-генетических исследований мужчин с нарушеничми сперматогенеза Huleyuk, N. Zastavna, D. Tyrkus, M. Makukh, H. Gavrylyshyn, S. Kurpisz, M. Оригинальные работы The chromosomal anomalies, microdeletions of AZF region of Y-chromosome and CFTR gene mutations have been studied among 80 infertile men with idiopathic spermatogenetic failure: 36 (45 %) patients with aspermia, 19 (24 %) patients with azoospermia and 25 (31 %) patients with severe oligoasthenoteratozoospermia. In total 30 % males with spermatogenetic failure genetic factor of infertility was observed. Karyotype anomalies were observed in 17.5 % of infertile men, within 16.2 % numerical and structural gonosomal anomalies and in 1.3 % – Robertsonian translocation were revealed. In 11 % males with spermatogenetic failure, Y-chromosome AZF region microdeletions were detected. The frequency of CFTR major mutation F508del among infertile men was 6.25 %. 5T allele of polymorphic locus IVS8polyT was detected in 7.5 % of examined men. The results obtained indicate the high complexity of cytogenetic and moleculargenetic studies of male infertility. Изучали аномалии хромосом, микроделеции AZF региона Y-хромосомы и мутации гена ТРБМ у 80 мужчин с идиопатическими нарушениями сперматогенеза, а именно: у 36 (45 %) пациентов с аспермией, 19 (24 %) пациентов с азооспермией и 25 (31 %) пациентов с олигоастенотератозооспермией IV степени. В общем у 30 % мужчин с нарушениями сперматогенеза установлены генетические факторы бесплодия. Нарушения кариотипа наблюдали у 17.5 % бесплодных мужчин, среди них у 16.2 % – количественные и структурные аномалии хромосом и у 1.3 % – робертсоновскую транслокацию. У 11 % мужчин с нарушениями сперматогенеза выявили микроделеции AZF региона Y хромосомы. Частота мажорной мутации F508del гена ТРБМ среди бесплодных мужчин составила 6.25 %. 5T аллель полиморфного локуса IVS8polyT выявили у 7.5 % обследованных мужчин. Полученные результаты свидетельствуют о высокой информативности комплексного цитогенетического и молекулярно-генетического исследования при мужском бесплодии. This work was supported of Science and Higher Education of Poland (grant no. N407 034 32/1371 [2007–2009]). 2010 Article Complex cytogenetic and molecular-genetic analysis of males with spermatogenesis failure / N. Huleyuk, D. Zastavna, M. Tyrkus , H. Makukh, S. Gavrylyshyn, M. Kurpisz // Цитология и генетика. — 2010. — Т. 44, № 5. — С. 51-56. — Бібліогр.: 31 назв. — англ. 0564-3783 https://nasplib.isofts.kiev.ua/handle/123456789/66807 576.312.332:616.37–008.6–056.7:616.697–076.5 en Цитология и генетика application/pdf Інститут клітинної біології та генетичної інженерії НАН України |
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Digital Library of Periodicals of National Academy of Sciences of Ukraine |
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| language |
English |
| topic |
Оригинальные работы Оригинальные работы |
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Оригинальные работы Оригинальные работы Huleyuk, N. Zastavna, D. Tyrkus, M. Makukh, H. Gavrylyshyn, S. Kurpisz, M. Complex cytogenetic and molecular-genetic analysis of males with spermatogenesis failure Цитология и генетика |
| description |
The chromosomal anomalies, microdeletions of AZF region of Y-chromosome and CFTR gene mutations have been studied among 80 infertile men with idiopathic spermatogenetic failure: 36 (45 %) patients with aspermia, 19 (24 %) patients with azoospermia and 25 (31 %) patients with severe oligoasthenoteratozoospermia. In total 30 % males with spermatogenetic failure genetic factor of infertility was observed. Karyotype anomalies were observed in 17.5 % of infertile men, within 16.2 % numerical and structural gonosomal anomalies and in 1.3 % – Robertsonian translocation were revealed. In 11 % males with spermatogenetic failure, Y-chromosome AZF region microdeletions were detected. The frequency of CFTR major mutation F508del among infertile men was 6.25 %. 5T allele of polymorphic locus IVS8polyT was detected in 7.5 % of examined men. The results obtained indicate the high complexity of cytogenetic and moleculargenetic studies of male infertility. |
| format |
Article |
| author |
Huleyuk, N. Zastavna, D. Tyrkus, M. Makukh, H. Gavrylyshyn, S. Kurpisz, M. |
| author_facet |
Huleyuk, N. Zastavna, D. Tyrkus, M. Makukh, H. Gavrylyshyn, S. Kurpisz, M. |
| author_sort |
Huleyuk, N. |
| title |
Complex cytogenetic and molecular-genetic analysis of males with spermatogenesis failure |
| title_short |
Complex cytogenetic and molecular-genetic analysis of males with spermatogenesis failure |
| title_full |
Complex cytogenetic and molecular-genetic analysis of males with spermatogenesis failure |
| title_fullStr |
Complex cytogenetic and molecular-genetic analysis of males with spermatogenesis failure |
| title_full_unstemmed |
Complex cytogenetic and molecular-genetic analysis of males with spermatogenesis failure |
| title_sort |
complex cytogenetic and molecular-genetic analysis of males with spermatogenesis failure |
| publisher |
Інститут клітинної біології та генетичної інженерії НАН України |
| publishDate |
2010 |
| topic_facet |
Оригинальные работы |
| citation_txt |
Complex cytogenetic and molecular-genetic analysis of males with spermatogenesis failure / N. Huleyuk, D. Zastavna, M. Tyrkus , H. Makukh, S. Gavrylyshyn, M. Kurpisz // Цитология и генетика. — 2010. — Т. 44, № 5. — С. 51-56. — Бібліогр.: 31 назв. — англ. |
| series |
Цитология и генетика |
| work_keys_str_mv |
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| first_indexed |
2025-07-22T04:26:33Z |
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2025-07-22T04:26:33Z |
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