张国铸 黄灿华 周 鹏 黄文城 万强.男性不育症和 Galntl5 基因突变位点的相关性[J].现代生物医学进展英文版,2015,15(7):1253-1255. |
男性不育症和 Galntl5 基因突变位点的相关性 |
Correlation between Male Infertility and Galntl5 Gene Mutation |
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DOI: |
中文关键词: 原发性不孕不育 Galntl5 无精症 少精症 |
英文关键词: Primary infertility Galntl5 Azoospermia Oligospermia |
基金项目:广东省科技计划项目( 201 2B010900044) |
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中文摘要: |
目的: 探讨男性不育症患者 Galntl55 基因 的一个突变位点与 男性不育症的关系及意义。 方法: 运用 聚合酶链反应( PCR)结合
琼脂糖凝胶电泳和基因 序列 分析等方法, 对 119 例 原发性男性不育症患者以及 135 名已生育的正常男 性进行 Galntl5 基因 筛查。
结果: 与 精子形成相关的关键基因 GALNTL5 中 1 个突变位点 G323A 和男性不育症存在一定相关性。因 此 Galntl5 基因 蛋白质编
码序列 区 G323A 可能是特发性少精症无精症的诱发因 素之一。 临床上对原发性不孕不育患者进行 GALNTL5 基因 突变筛查是十
分必要。 |
英文摘要: |
Objective:To explore the relationship and significance between male infertility and Galntl5 gene mutation in patients
with male infertility.Methods:The Galntl5 gene were detected by PCR technique combined with agarose gel electrophoresis and gene sequence analysis in 1 19 primary infertile patients and 135 normal subjects who had offsprings.Results:G323A, one gene mutation site of
Galntl5 gene, which is the essential gene for sperm development, was found to be candidate gene for male asthenozoospermia. The study
demonstrates that G323A, in the coding region of GALNTL5 gene, may be one of the causative factors of oligospermia and azoospermia
and can result in male infertility. Clinically, it is necessary to perform a screening examination for G323A gene in male patients with primary infertility |
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