本文選題：Leber遺傳性視神經病變 + 線粒體��； 參考：《中國老年學雜志》2014年11期

【摘要】：目的分析皖北地區(qū)Leber遺傳性視神經病(LHON)一家系線粒體序列變異情況。方法收集皖北地區(qū)LHON病例的一個家系中兩個病例及一位攜帶者,運用聚合酶鏈式反應(PCR),DNA測序及生物信息學等方法,設計4對特異性引物對LHON患者及其母系親屬的線粒體ND1,ND4,ND6區(qū)域DNA進行檢測,與正常人群的線粒體對應基因序列進行比對。結果發(fā)現(xiàn)2個新的變異位點,對應的氨基酸殘基也發(fā)生改變,并且具有家系遺傳特點。結論新發(fā)現(xiàn)的兩個變異位點可能與LHON的發(fā)生密切相關。
[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.
【作者單位】： 蚌埠醫(yī)學院生物科學系;蚌埠醫(yī)學院預防醫(yī)學系;蚌埠醫(yī)學院第一附屬醫(yī)院;
【基金】：安徽省高校優(yōu)秀青年人才基金(No.2012SQRL091) 蚌埠醫(yī)學院優(yōu)秀人才基金(No.BY0747)
【分類號】：R774.6

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