دورية أكاديمية
Y-chromosome haplogroups and Azoospermia Factor (AZF) analysis in Tunisian infertile male.
| العنوان: | Y-chromosome haplogroups and Azoospermia Factor (AZF) analysis in Tunisian infertile male. |
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| المؤلفون: | Ghorbel M; Faculty of Medicine, Laboratory of Human Molecular Genetics, Universite de Sfax Faculte de Medecine de Sfax, Sfax, Tunisia., Baklouti-Gargouri S; Faculty of Medicine, Laboratory of Human Molecular Genetics, Universite de Sfax Faculte de Medecine de Sfax, Sfax, Tunisia., Keskes R; Faculty of Medicine, Laboratory of Human Molecular Genetics, Universite de Sfax Faculte de Medecine de Sfax, Sfax, Tunisia., Sellami A; Faculty of Medicine, Laboratory of Histology & Embryology, Universite de Sfax Faculte de Medecine de Sfax, Sfax, Tunisia., McElreavy K; Human Developmental Genetics Unit, Institut Pasteur, Paris, France., Ammar-Keskes L; Faculty of Medicine, Laboratory of Human Molecular Genetics, Universite de Sfax Faculte de Medecine de Sfax, Sfax, Tunisia.; Faculty of Medicine, Laboratory of Histology & Embryology, Universite de Sfax Faculte de Medecine de Sfax, Sfax, Tunisia. |
| المصدر: | Human fertility (Cambridge, England) [Hum Fertil (Camb)] 2023 Dec; Vol. 26 (5), pp. 1238-1247. Date of Electronic Publication: 2023 Jan 02. |
| نوع المنشور: | Journal Article |
| اللغة: | English |
| بيانات الدورية: | Publisher: Taylor & Francis Country of Publication: England NLM ID: 100888143 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1742-8149 (Electronic) Linking ISSN: 14647273 NLM ISO Abbreviation: Hum Fertil (Camb) Subsets: MEDLINE |
| أسماء مطبوعة: | Publication: Philadelphia, PA : Taylor & Francis Original Publication: Cambridge, UK : Journals of Reproduction and Fertility Ltd., c1998- |
| مواضيع طبية MeSH: | Azoospermia*/genetics , Infertility, Male*/genetics , Oligospermia*/genetics , Sertoli Cell-Only Syndrome*, Humans ; Male ; Chromosomes, Human, Y/genetics ; DNA Copy Number Variations ; RNA-Binding Proteins/genetics ; Semen ; Spermatogenesis/genetics |
| مستخلص: | The aim of the present study was to clarify the implication of Y chromosome genetic variations and haplogroups in Tunisian infertile men. A total of 27 Y-chromosomal binary markers partial microdeletions (gr/gr, b1/b3 and b2/b3) and copy number variation of DAZ and CDY genes in the AZFc region were analysed in 131 Tunisian infertile men with spermatogenic failure and severe reduced sperm concentrations and in 85 normospermic men as controls. Eleven different haplogroups in the overall population study (E3b2; J1J*, E1, E3b*, F, G, K, P/Q, R*, R1* and R1a1) were found. Interestingly, the J1J* haplogroup was significantly more frequent in azoo/oligospermic patients than in normospermic men (35.1% and 22.3%, respectively ( p value = 0.04)). Results showed also that patients without DAZ/CDY1 copies loss and without partial microdeletions belonged to the R1 haplogroup. The relative high frequencies of two haplogroups, E3b2 (35.1%) and J (30%) was confirmed in Tunisia. We reported in the present study and for the first time, that J1J* haplogroup may confer a risk factor for infertility in the Tunisian population and we suggested that R1 haplogroup may ensure certain stability to Y-chromosome in Tunisian men. |
| فهرسة مساهمة: | Keywords: CDY1gene copies; DAZ gene copies; Male infertility; Y chromosome haplogroups; gr/gr microdeletion |
| المشرفين على المادة: | 0 (RNA-Binding Proteins) 0 (DAZ1 protein, human) EC 4.2.1.- (CDYL protein, human) |
| SCR Disease Name: | Male sterility due to Y-chromosome deletions |
| تواريخ الأحداث: | Date Created: 20230102 Date Completed: 20240110 Latest Revision: 20240110 |
| رمز التحديث: | 20240111 |
| DOI: | 10.1080/14647273.2022.2163194 |
| PMID: | 36591797 |
| قاعدة البيانات: | MEDLINE |
PDF full text from Publisher | تدمد: | 1742-8149 |
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| DOI: | 10.1080/14647273.2022.2163194 |