Y-chromosome haplogroups and Azoospermia Factor (AZF) analysis in Tunisian infertile male.

IF 2.1 4区 医学 Q2 OBSTETRICS & GYNECOLOGY Human Fertility Pub Date : 2023-12-01 Epub Date: 2023-01-02 DOI:10.1080/14647273.2022.2163194
Myriam Ghorbel, Siwar Baklouti-Gargouri, Rim Keskes, Afifa Sellami, Ken McElreavy, Leila Ammar-Keskes
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Abstract

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.

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突尼斯不育男性的 Y 染色体单倍群和无精子症因子(AZF)分析。
本研究旨在阐明突尼斯不育男性的 Y 染色体基因变异和单倍群的影响。研究分析了 131 名患有生精功能障碍和精子浓度严重下降的突尼斯不育男性以及 85 名精子正常男性作为对照组的 27 个 Y 染色体二元标记部分微缺失(gr/gr、b1/b3 和 b2/b3)以及 AZFc 区 DAZ 和 CDY 基因的拷贝数变异。在整个人群研究中发现了 11 个不同的单倍群组(E3b2、J1J*、E1、E3b*、F、G、K、P/Q、R*、R1* 和 R1a1)。有趣的是,J1J*单倍群在无精子症/少精子症患者中的出现率明显高于正常精子症男性(分别为35.1%和22.3%(P值=0.04))。结果还显示,没有 DAZ/CDY1 拷贝缺失和部分微缺失的患者属于 R1 单倍群。在突尼斯,E3b2(35.1%)和 J(30%)这两个单倍群的频率相对较高。我们在本研究中首次报告了 J1J* 单倍群可能是突尼斯人群不育症的一个风险因素,并认为 R1 单倍群可确保突尼斯男性 Y 染色体的一定稳定性。
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来源期刊
Human Fertility
Human Fertility OBSTETRICS & GYNECOLOGY-REPRODUCTIVE BIOLOGY
CiteScore
3.30
自引率
5.30%
发文量
50
期刊介绍: Human Fertility is a leading international, multidisciplinary journal dedicated to furthering research and promoting good practice in the areas of human fertility and infertility. Topics included span the range from molecular medicine to healthcare delivery, and contributions are welcomed from professionals and academics from the spectrum of disciplines concerned with human fertility. It is published on behalf of the British Fertility Society. The journal also provides a forum for the publication of peer-reviewed articles arising out of the activities of the Association of Biomedical Andrologists, the Association of Clinical Embryologists, the Association of Irish Clinical Embryologists, the British Andrology Society, the British Infertility Counselling Association, the Irish Fertility Society and the Royal College of Nursing Fertility Nurses Group. All submissions are welcome. Articles considered include original papers, reviews, policy statements, commentaries, debates, correspondence, and reports of sessions at meetings. The journal also publishes refereed abstracts from the meetings of the constituent organizations.
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