The Low Prevalence of Y Chromosomal Microdeletions is Observed in the Oligozoospermic Men in the Area of Mato Grosso State and Amazonian Region of Brazilian Patients.

Clinical Medicine Insights-Reproductive Health Pub Date : 2014-08-11 eCollection Date: 2014-01-01 DOI:10.4137/CMRH.S15475

Gleice Cristina Dos Santos Godoy, Bianca Borsatto Galera, Claudinéia Araujo, Jacklyne Silva Barbosa, Max Fernando de Pinho, Marcial Francis Galera, Sebastião Freitas de Medeiros

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引用次数: 4

Abstract

Objective: To determine the prevalence of chromosomal abnormalities and microdeletions on Y chromosome in infertile patients with oligozoospermia or azoospermia in Mato Grosso state, Brazil.

Methods: This cross-sectional study enrolled 94 men from infertile couples. Karyotype analysis was performed by lymphocyte culture technique. DNA from each sample was extracted using non-enzymatic method. Microdeletions were investigated by polymerase chain reaction (PCR).

Results: With the use of cytogenetic analysis, five patients (5.3%) had abnormal karyotype, one azoospermic patient (1.1%) had karyotype 46,XY,t(7;1) (qter-p35), one (1.1%) with mild oligozoospermia had karyotype 46,XY,delY(q), and two other azoospermic patients had karyotype 47,XXY, consistent with Klinefelter syndrome (KS). One of them (1.1%) with severe oligozoospermia had karyotype 46,XY,8p+. Microdeletion on Y chromosome was found in the azoospermia factor c (AZFc) region in only one azoospermic patient (1.1%).

Conclusions: The prevalence of genetic abnormalities in oligo/azoospermic Brazilian men from infertile couple was 5.3%, and microdeletion on Y chromosome was not a common finding in this population (1.1%).

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在马托格罗索州和亚马逊地区巴西患者的少精子男性中观察到Y染色体微缺失的低患病率。

目的:了解巴西马托格罗索州少精症和无精症患者染色体异常和Y染色体微缺失的发生率。方法:本横断面研究纳入94名不育夫妇。采用淋巴细胞培养技术进行核型分析。每个样品的DNA采用非酶法提取。用聚合酶链反应(PCR)检测微缺失。结果:细胞遗传学分析，5例(5.3%)患者核型异常，1例(1.1%)无精子症患者核型为46、XY、t(7;1) (qter-p35)， 1例(1.1%)轻度少精子症患者核型为46、XY、delY(q)， 2例(1.1%)无精子症患者核型为47、XXY，符合Klinefelter综合征(KS)。严重少精症1例(1.1%)核型为46、XY、8p+。在无精子症患者中，仅有1例(1.1%)在无精子症因子c (AZFc)区发现Y染色体微缺失。结论:来自不育夫妇的少精/无精巴西男性遗传异常患病率为5.3%，Y染色体微缺失在该人群中并不常见(1.1%)。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Clinical Medicine Insights-Reproductive Health OBSTETRICS & GYNECOLOGY-

自引率

0.00%

发文量

审稿时长

8 weeks

期刊介绍： Clinical Medicine Insights: Reproductive Health is a peer reviewed; open access journal, which covers all aspects of Reproduction: Gynecology, Obstetrics, and Infertility, spanning both male and female issues, from the physical to the psychological and the social, including: sex, contraception, pregnancy, childbirth, and related topics such as social and emotional impacts. It welcomes original research and review articles from across the health sciences. Clinical subjects include fertility and sterility, infertility and assisted reproduction, IVF, fertility preservation despite gonadotoxic chemo- and/or radiotherapy, pregnancy problems, PPD, infections and disease, surgery, diagnosis, menopause, HRT, pelvic floor problems, reproductive cancers and environmental impacts on reproduction, although this list is by no means exhaustive Subjects covered include, but are not limited to: • fertility and sterility, • infertility and ART, • ART/IVF, • fertility preservation despite gonadotoxic chemo- and/or radiotherapy, • pregnancy problems, • Postpartum depression • Infections and disease, • Gyn/Ob surgery, • diagnosis, • Contraception • Premenstrual tension • Gynecologic Oncology • reproductive cancers • environmental impacts on reproduction, • Obstetrics/Gynaecology • Women''s Health • menopause, • HRT, • pelvic floor problems, • Paediatric and adolescent gynaecology • PID