线粒体12SrRNA突变与耳聋相关性研究进展

发布时间：2018-03-02 20:14

本文选题：线粒体DNA　切入点：S　出处：《中国抗生素杂志》2015年03期 　论文类型：期刊论文

【摘要】：耳聋是影响人类健康和造成人类残疾的常见疾病,它是由遗传和环境因素共同作用引起的。遗传性耳聋包括综合征型耳聋和非综合征型耳聋,其中,线粒体12S r RNA基因突变与其甚是关系密切,位于12S r RNA解码区的A1555G、C1494T、961del T/ins C(n)等突变与氨基糖苷类抗生素耳毒性和非综合征型耳聋密切相关。A1555G和C1494T的致聋机理已得到确定:A1555G或C1494T突变在12S r RNA的A区形成一个新的结合碱基对,使12S r RNA的二级结构与细菌的1 6S r RNA更为相似,促进了氨基糖苷类抗生素与之结合,使得带该类突变的个体在使用氨基糖苷类抗生素后会发生听力缺失。通过对线粒体12S r RNA基因突变的研究,能够明确部分非综合征型耳聋的病因,从而为患者及其家族成员提供准确的遗传咨询和指导,为防聋治聋提供帮助。
[Abstract]:The impact on human health and cause deafness is a common disability, it is caused by genetic and environmental factors. Genetic deafness including syndromic and non syndromic deafness, the mitochondrial 12S R RNA gene mutation and is very close to 12S R RNA decoding A1555G C1494T, 961del T/ins C (n) and the mechanism of deafness caused by mutation and aminoglycoside antibiotic ototoxicity and non syndromic deafness is closely related to.A1555G and C1494T have been identified: mutations in A1555G or C1494T a new 12S R RNA junction is formed in the A area of base pairs, the 12S R RNA two level structure 1 6S R RNA and bacteria is more similar to the promotion of aminoglycoside antibiotics with the combination of allowing the mutation of individual hearing loss in the use of aminoglycoside antibiotics. Through the study on the mutation of mitochondrial 12S R RNA gene, It can identify the causes of partial non syndromic deafness, and provide accurate genetic counseling and guidance for the patients and their family members, and help to prevent deafness.

【作者单位】：南华大学药物药理研究所;
【基金】：国家自然科学基金(No.81102516) 南华大学博士启动基金(No.2012XQD18)
【分类号】：R764.43

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