皖北地区Leber遗传性视神经病一家系线粒体突变位点

发布时间：2018-05-09 02:03

本文选题：Leber遗传性视神经病变 + 线粒体　；参考：《中国老年学杂志》2014年11期

【摘要】：目的分析皖北地区Leber遗传性视神经病(LHON)一家系线粒体序列变异情况。方法收集皖北地区LHON病例的一个家系中两个病例及一位携带者,运用聚合酶链式反应(PCR),DNA测序及生物信息学等方法,设计4对特异性引物对LHON患者及其母系亲属的线粒体ND1,ND4,ND6区域DNA进行检测,与正常人群的线粒体对应基因序列进行比对。结果发现2个新的变异位点,对应的氨基酸残基也发生改变,并且具有家系遗传特点。结论新发现的两个变异位点可能与LHON的发生密切相关。
[Abstract]:Objective to analyze the mitochondrial sequence variation in a family of Leber hereditary optic neuropathy (LHON) in northern Anhui. Methods two LHON cases and one carrier were collected from a family of LHON cases in northern Anhui Province, and the DNA sequencing and bioinformatics methods were used. Four pairs of specific primers were designed to detect the DNA of mitochondrial ND1 and ND4Nd6 of LHON patients and their maternal relatives, and compared with the corresponding gene sequences of mitochondria in normal subjects. The results showed that the amino acid residues of the two new mutation sites were also changed, and had the genetic characteristics of the pedigree. Conclusion the two new mutation sites may be closely related to the occurrence of LHON.
【作者单位】：蚌埠医学院生物科学系;蚌埠医学院预防医学系;蚌埠医学院第一附属医院;
【基金】：安徽省高校优秀青年人才基金(No.2012SQRL091) 蚌埠医学院优秀人才基金(No.BY0747)
【分类号】：R774.6

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