土耳其不育男性Y染色体微缺失的鉴定

Identification of Y chromosome microdeletions in infertile Turkish men.

作者信息

Küçükaslan Ali Şahin, Çetintaş Vildan Bozok, Altıntaş Raşit, Vardarlı Aslı Tetik, Mutlu Zeynep, Ulukuş Murat, Semerci Bülent, Eroğlu Zuhal

机构信息

Department of Medical Biology, Faculty of Medicine, Ege University, İzmir, Turkey.

Department of Urology, Faculty of Medicine, Ege University, İzmir, Turkey.

出版信息

Turk J Urol. 2013 Sep;39(3):170-4. doi: 10.5152/tud.2013.035.

DOI:10.5152/tud.2013.035

PMID:26328103

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4548623/

Abstract

OBJECTIVE

The aim of this study was to determine the frequencies of Y chromosome microdeletions in infertile azoospermic and oligozoospermic Turkish men and in healthy control subjects.

MATERIAL AND METHODS

Sixty-four azoospermic and 51 oligozoospermic patients infertile patients, and 70 healthy men who had a child without the aid of assisted reproductive technologies were included in this study. DNA was extracted from peripheral blood samples collected from the patients. Following multiplex PCR performed with 15 different primer sequences, Y chromosome AZFa, AZFb, AZFc and AZFd region microdeletions were determined by agarose gel electrophoresis.

RESULTS

Y chromosome microdeletions were detected in 8 (12.5%) patients in the azoospermia group and 3 (5.9%) patients in the oligozoospermia group. The overall frequency of Y chromosome microdeletions in all infertile cases was 9.6%. Y chromosome microdeletions were not found in the healthy control group. Among the infertile cases, there were 4 (3.48%) AZFa, 2 (1.74%) AZFb, 3 (2.61%) AZFc and 7 (6.09%) AZFd region microdeletions. Y chromosome microdeletions were not found among healthy men in the control group.

CONCLUSION

The presence of Y chromosome microdeletions among azoospermic and oligozoospermic infertile males suggests that routine genetic testing and genetic counseling prior to the use of assisted reproduction techniques are necessary.

摘要

目的

本研究旨在确定土耳其不育无精子症和少精子症男性以及健康对照者中Y染色体微缺失的频率。

材料与方法

本研究纳入了64例无精子症不育患者、51例少精子症不育患者以及70名未借助辅助生殖技术生育过孩子的健康男性。从患者采集的外周血样本中提取DNA。使用15种不同引物序列进行多重PCR后，通过琼脂糖凝胶电泳确定Y染色体AZFa、AZFb、AZFc和AZFd区域的微缺失情况。

结果

无精子症组中有8例（12.5%）患者检测到Y染色体微缺失，少精子症组中有3例（5.9%）患者检测到Y染色体微缺失。所有不育病例中Y染色体微缺失的总体频率为9.6%。健康对照组未发现Y染色体微缺失。在不育病例中，AZFa区域微缺失有4例（3.48%），AZFb区域微缺失有2例（1.74%），AZFc区域微缺失有3例（2.61%），AZFd区域微缺失有7例（6.09%）。对照组健康男性未发现Y染色体微缺失。