【作者】 杨利娟；

【导师】 李彦华；

【作者基本信息】 新疆医科大学 ， 中西医结合临床， 2010， 硕士

【摘要】 目的:研究新疆地区维吾尔族和汉族非综合征型耳聋患者中线粒体DNA 12S rRNA A1555G突变频率,并比较维汉的差异;探讨肾虚血瘀型与线粒体DNA12S rRNA A1555G突变的相关性。方法:收集新疆地区92例维汉非综合征型耳聋患者为病例组,106例维汉正常人为对照组,其中病例组维吾尔族48例,汉族44例,对照组维吾尔族52例,汉族54例;对耳聋患者中医辨证分为肾虚血瘀型和非肾虚血瘀型。抽取外周静脉血,从白细胞中提取DNA,多聚酶链反应扩增线粒体DNA目的片断,Alw26I限制性内切酶检测A1555G点突变,而后对阳性病例的PCR产物进行DNA测序验证。结果:肾虚血瘀型患者占所有耳聋患者的比例为35.9%。8例患者检测出线粒体DNA 12S rRNA A1555G突变,6例为汉族,2例为维吾尔族。其中6例为肾虚血瘀型,7例有明确的氨基糖甙类抗生素用药史;对照组中未发现该突变。维吾尔族病例组与对照组、维、汉病例组12S rRNA A1555G突变检测结果比较均无统计学意义(p>0.05),而汉族病例组与对照组12S rRNA A1555G突变检测结果比较有统计学意义(p<0.05),肾虚血瘀型与12S rRNA A1555G突变有相关性(p<0.05)。结论:肾虚血瘀型的患者可能携带12S rRNA A1555G突变;线粒体DNA 12S rRNA A1555G在本地区有较高的发生频率,携带有该突变的个体对氨基糖甙类抗生素的耳毒作用有易感性,进行遗传咨询和科学干预将有助于减少或延缓耳聋的发生。更多还原

【Abstract】 Objective: To investigate the mutation frequency of mtDNA 12S rRNA A1555G, and to contrast the difference between Uigur and Han patients with non-syndromic hearing loss in Xinjiang;to explore the relations between the mutation and kidney deficiency with blood stasis type. Methods: 92 deaf patients (48 of Uigur ,44 of Han) as the study group and 106 normal people (52 of Uigur,54 of Han) as the control group were collected in Xinjiang. The deafness were divided into kidney deficiency with blood stasis type and non-kidney deficiency with blood stasis type with Traditional Chinese Medicine differentiation. Blood samples were obtained from them with informed consents. Genomic DNA was extracted from isolated leukocytes. The mitochondrial DNA fragments were amplified by polymerase chain reaction. MtDNA 12S rRNA A1555G mutation was detected using Alw26I restriction endonuclease digestion, followed by direct sequencing to identify the A1555G mutation. Results: Kidney deficiency with blood stasis type is 35.9% in all of patients. 8 patients (2 of Uigur, 6 of Han) are detected to carry mtDNA 12S rRNA A1555G mutation, including 6 cases with kidney deficiency with blood stasis type and 7 cases with aminoglycoside antibiotics. There is no mtDNA A1555G mutation in the control group. There is no statistically significant difference between the study group and the control group of Uigur, the study group of Uigur and Han (p>0.05). But the study group and the control group of Han have significant differences (p<0.05). kidney deficiency with blood stasis type is related to 12S rRNA A1555G mutation (p<0.05). Conclusions: Patients with kidney deficiency with blood stasis type may carry the mtDNA 12S rRNA A1555G. It is obvious that the mtDNA A1555G mutation has a high incidence in this region. The mtDNA 12S rRNA A1555G mutation is related to aminoglycoside antibiotics-induced deafness, which can cause genetic susceptibility to aminoglycoside antibiotics ototoxicity. It is helpful to reduce or delay the occurrence of deafness by genetic counseling and scientific intervention.更多还原