| 张国铸 黄灿华 周鹏 黄文城 万强.KATNAL1 基因突变筛查及其与无精症的相关性分析[J].现代生物医学进展英文版,2015,15(10):1909-1911. |
| KATNAL1 基因突变筛查及其与无精症的相关性分析 |
| KATNAL1 Gene Mutation Screening and its Association with Azoospermia |
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| DOI： |
| 中文关键词: 原发性不育 KATNAL1 无精症 少精症 |
| 英文关键词: Primary infertility KATNAL1 Azoospermia Oligospermia |
| 基金项目:广东省科技计划项目（2012B010900044） |
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| 中文摘要: |
| 目的：探讨男性不育症患者Katnal15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77 例原发性男性不育患者以及84 名已生育的正常男性进行Katnal1 基因筛查。结
果：与精子形成的关键基因KATNAL1 中1个致病突变位点A236G 为的男性精子无力症Katnal1 基因筛查的主要候选基因。结
论：Katnal1 基因蛋白质编码序列区A236G 可能是特发性少精无精症的诱发因素之一。临床上对原发性不育患者进行A236G 基
因突变筛查是十分必要的。 |
| 英文摘要: |
| Objective:To explore the association between a mutation of male sterility gene Katnal15 and the male infertility and
its significance.Methods:Katnal1 gene of 77 primary infertile patients and 84 normal fertile male was detected by PCR techniques
combined with agarose gel electrophoresis and gene sequence analysis.Results:A236G，an important disease-causing gene mutation site
of Katnal1 gene which was essential for sperm development, was found to be the candidate screening gene for male azoospermia.Conclusion:The study demonstrates that A236G in the coding region of KATNAL1 gene may be one of the causative factors of
oligospermia and azoospermia, resulting in male infertility. Clinically, it is necessary to perform a screening examination for A236G gene
within the male primary infertile patients. |
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