中国云南省线粒体DNA 12SrRNA A1555G突变流行病学调查及遗传规律研究

发布时间：2019-01-29 01:05

【摘要】： 目的：在以往大量的研究显示非综合症性感音神经性耳聋与线粒体基因突变有密切关系的基础上探讨在中国云南省非综合症性感音神经性耳聋患者群体中线粒体DNA 12SrRNA A1555G突变筛查、流行状况、遗传规律及对于特定的药物干预预防的意义。方法：对中国云南省散发的共452例非综合症性感音神经性耳聋患者外周静脉血提取DNA、聚合酶链反应(PCR)扩增目的片段、限制性酶切检测出A1555G突变阳性个体。对阳性个体经过上门、电话等问卷方式调查母系家族耳聋的发病情况并绘制出详细母系家系图,然后对自愿参与检测的家系母系成员采血、提取DNA、PCR扩增目的片段、DNA测序验证。结果：在452例非综合症性感音神经性耳聋患者中共筛查出A1555G阳性个体共38例,突变率为8.4%,有详细家系图的20例家系家中10个家庭参与了调查研究,参与采血人数共88人,其中听力正常36人,感音神经性耳聋患者52人；经过筛查4人无A1555G点突变,84人有A1555G点突变,10人为异质性表现有套峰,70人为均质性突变；12人无氨基糖甙类抗生素用药史,余均有氨基糖甙类抗生素用药史,在云南汉族人群中较少数民族外显率高(P0.01)。结论：在中国云南省药物性耳聋患者比例数大,并且线粒体DNA A1555G突变率高,对该地区进行DNA 12SrRNA A1555G突变筛查及进行药物干预预防的宣教有重要的意义。
[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.
【学位授予单位】：昆明医学院
【学位级别】：硕士
【学位授予年份】：2010
【分类号】：R764.43

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