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目的:探讨维吾尔族耳聋肾虚血瘀型与mtDNA12srRNA基因突变的关系。方法:采用PCR直接测序法对137例维吾尔族散发感音神经性耳聋患者和93例正常人进行对照mtDNA12srRNA基因突变检测。137例耳聋患者中肾虚血瘀型为105例、非肾虚血瘀型为32例,通过统计学分析,研究肾虚血瘀型和12srRNA基因突变有无相关性。结果:肾虚血瘀型耳聋组患者中12srRNA有多种形式的突变,突变热点A1555G发现4例,高于目前全国平均水平,还发现线粒体突变热点961delT 1例,A827G 1例,nt955ccccnt960 1例,通过统计学分析,维吾尔族散发感音神经性耳聋肾虚血瘀型与mtDNA12srRNA基因突变有相关关系。结论:肾虚血瘀可能是导致新疆地区mtDNA12srRNA基因突变产生差异性的原因之一,具有一定的民族和地域特点。
Objective: To investigate the relationship between kidney deficiency and blood stasis type and mtDNA12srRNA gene mutation in Uygur deafness patients. Methods: The mtDNA12srRNA gene mutation was detected in 137 Uygur patients with sensorineural deafness and 93 normal controls by PCR direct sequencing. 137 cases of deafness in kidney deficiency and blood stasis type was 105 cases, non-kidney deficiency and blood stasis type in 32 cases, through statistical analysis, research kidney deficiency and blood stasis type and 12srRNA gene mutation whether or not. Results: There were multiple forms of 12srRNA in patients with deafness syndrome of kidney deficiency and blood stasis group. Mutant hot spot A1555G was found in 4 cases, which was higher than the national average level. One mitochondrial mutation hot spot 961delT, 1 case of A827G and 1 case of nt955ccccnt960 were found. Statistical analysis, Uygur distributed sensorineural deafness kidney deficiency and blood stasis type and mtDNA12srRNA gene mutation is related. Conclusion: Kidney deficiency and blood stasis may be one of the reasons leading to the difference of mtDNA12srRNA gene mutation in Xinjiang, which has certain national and regional characteristics.