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MARK4基因在小鼠的表达研究及其在DFNA4基因搜寻中的意义 被引量：1

Expression of MARK4 Gene in Mouse Cochlea and as Candidate Gene for the Hearing Loss Locus, DFNA4
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摘要 目的探讨微管亲和力调节激酶基因MARK4基因在小鼠不同组织(尤其耳蜗)中的表达情况,以及在不同发育期耳蜗中的表达变化,研究该基因与听觉系统功能的关系,为DFNA4型耳聋基因的定位克隆提供有意义的线索。方法分别取成年(30天)健康NIH小鼠的五种组织(心、肝、肾、脑、耳蜗)以及不同发育期(出生后6、11、15、30天)健康NIH小鼠的耳蜗组织,提取各组织的总RNA,针对小鼠MARK4基因的mRNA序列(NM_172279),设计引物进行逆转录多聚酶链反应(RT-PCR);同时,利用生物信息学方法了解MARK4基因与DF-NA4型耳聋基因座的定位关系。结果①成年小鼠(30天)五种组织中,除心脏组织外其余四种组织均有MARK4基因的表达,以肝、肾中表达量较高,而耳蜗和脑组织中表达稍弱,表现出一定的组织特异性;②处于新生期(6天)、幼年期(11、15天)、成年期(30天)的小鼠,其耳蜗组织中均有MARK4基因的表达,以新生期表达量最高,生长至成年期时较前稍有降低,但无统计学差异;③MARK4基因位于人类19号染色体的长臂上,恰位于中国DFNA4型耳聋家系的定位区域。结论MARK4基因在成年小鼠的表达具有一定的组织特异性,其在耳蜗组织的表达情况提示该基因与听觉功能相关,可能在小鼠听觉系统的发育过程中产生作用。MARK4基因无论从位置上还是功能上考虑,均是中国DFNA4型耳聋家系极好的候选基因。 Objective To investigate the expression of MARK4 gene in different organs and during different embryonic stages of mice, and to look for the important clue to cloning the gene of non--syndromic hearing loss, DFNA4. Methods Total RNA was extracted from five different organs tissue of adult NIH mice and the cochlea during different embryonic stages by methods of Trizol, then RT--PCR reaction was carried out to identify the distribution of MARK4 gene in different oragns and embryonic stages. The locating characteristic of MARK4 gene was analyzed with bioinformatic tools. Results MARK4 gene was expressed in four organs tissue of adult mice （postna- tal 30 days） , especially in the liver and the kidney. Expression of MARK4 gene was also detected in the cochlea tis- sue during different embryonic stages, including newborn （postnatal 6 days）, juvenile （11 and 15 days） and adult stages （30 days）. Moreover, the expression level was highest in the newborn stage, and became lower in the adult stage. MARK4 gene was located in human chromosome 19. The region was just involved in the non-- syndromic hearing loss locus, DFNA4. Conclusion This study reveales the expression pattern of MARK4 gene in mice, which may be involved in hearing system. MARK4 gene is an excellent positional and functional candidate for the hearing loss orignated from the DFNA4 gene in Chinese DFNA4 family.
作者 纵亮 王秋菊 郭维维 韩明鲲 兰兰 赵翠 韩东一
机构地区 解放军总医院耳鼻咽喉一头颈外科 解放军总医院第一附属医院耳鼻咽喉一头颈外科
出处 《听力学及言语疾病杂志》 CAS CSCD 2008年第3期178-181,共4页 Journal of Audiology and Speech Pathology
基金 国家863项目(2006AA02Z181) 国家自然基金面上项目(30672310&30771203) 高等学校全国优秀博士学位论文作者专项资金资助项目(200463) 军队“十一五”杰出人才项目(06J018) 北京市科技计划重大项目(D0906005040291) 国家产73项目(2007CB507400) 北京重大专项课题项目(7070002) 国家“十一五”科技支撑计划(2006BAI02B06&2007BAI18B12)
关键词 MARK4基因 逆转录多聚酶链反应 DFNA4基因 定位克隆 MARK4 gene RT-- PCR DFNA4 Positional cloning
分类号 R764.3 [医药卫生—耳鼻咽喉科]
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参考文献10

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共引文献2

同被引文献43

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听力学及言语疾病杂志
2008年 第3期

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