【摘要】： 目的：在以往大量的研究顯示非綜合癥性感音神經(jīng)性耳聾與線粒體基因突變有密切關系的基礎上探討在中國云南省非綜合癥性感音神經(jīng)性耳聾患者群體中線粒體DNA 12SrRNA A1555G突變篩查、流行狀況、遺傳規(guī)律及對于特定的藥物干預預防的意義。 方法：對中國云南省散發(fā)的共452例非綜合癥性感音神經(jīng)性耳聾患者外周靜脈血提取DNA、聚合酶鏈反應(PCR)擴增目的片段、限制性酶切檢測出A1555G突變陽性個體。對陽性個體經(jīng)過上門、電話等問卷方式調查母系家族耳聾的發(fā)病情況并繪制出詳細母系家系圖,然后對自愿參與檢測的家系母系成員采血、提取DNA、PCR擴增目的片段、DNA測序驗證。 結果：在452例非綜合癥性感音神經(jīng)性耳聾患者中共篩查出A1555G陽性個體共38例,突變率為8.4%,有詳細家系圖的20例家系家中10個家庭參與了調查研究,參與采血人數(shù)共88人,其中聽力正常36人,感音神經(jīng)性耳聾患者52人；經(jīng)過篩查4人無A1555G點突變,84人有A1555G點突變,10人為異質性表現(xiàn)有套峰,70人為均質性突變；12人無氨基糖甙類抗生素用藥史,余均有氨基糖甙類抗生素用藥史,在云南漢族人群中較少數(shù)民族外顯率高(P0.01)。 結論：在中國云南省藥物性耳聾患者比例數(shù)大,并且線粒體DNA A1555G突變率高,對該地區(qū)進行DNA 12SrRNA A1555G突變篩查及進行藥物干預預防的宣教有重要的意義。
[Abstract]:Objective: to explore the relationship between non-syndromic sensorineural deafness and mitochondrial gene mutation in Yunnan Province, China, on the basis of a large number of previous studies showing that non-syndromic sensorineural hearing loss is closely related to mitochondrial gene mutation in a population of non-syndromic sensorineural hearing loss patients. DNA 12SrRNA A1555G mutation screening, Prevalence, genetic law and significance for specific drug intervention and prevention. Methods: a total of 452 patients with non-syndromic sensorineural hearing loss were collected from peripheral venous blood of Yunnan Province, China. The target fragments were amplified by DNA, polymerase chain reaction (PCR). The A1555G mutation positive individuals were detected by restriction endonuclease digestion. The incidence of matrilineal deafness was investigated and detailed matriarchal family map was drawn by means of questionnaire, such as door to door, telephone and so on. Then blood samples were collected from the maternal members who volunteered to participate in the examination, and DNA,PCR amplified fragments were extracted. DNA sequencing. Results: a total of 38 A1555G positive individuals were screened in 452 patients with non-syndromic sensorineural deafness, with a mutation rate of 8.4%. Ten families of 20 families with detailed family diagrams participated in the investigation. A total of 88 blood samples were collected, including 36 normal hearing and 52 sensorineural deafness. After screening, there were no A1555G point mutations in 4 cases, A1555G point mutations in 84 cases, peaks in 10 cases and homogeneity mutations in 70 cases. There were 12 patients with no aminoglycoside antibiotics and all the others had the history of using aminoglycoside antibiotics. The prevalence rate of aminoglycoside antibiotics in Yunnan Han population was higher than that in minority nationality (P0.01). Conclusion: there are a large proportion of patients with drug-induced deafness in Yunnan Province of China, and the mutation rate of mitochondrial DNA A1555G is high. It is of great significance to carry out DNA 12SrRNA A1555G mutation screening and drug intervention and prevention in this area.
【學位授予單位】：昆明醫(yī)學院
【學位級別】：碩士
【學位授予年份】：2010
【分類號】：R764.43

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