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目的:研究新疆地区维族非综合征型遗传性耳聋线粒体DNA12SrRNA A1555G突变频率,探讨与肾虚血瘀型的关系。方法:收集新疆地区51例非综合征型遗传性耳聋患者,其中肾虚血瘀型占67%(34/51),另选53例维族听力正常者作为对照。抽取外周静脉血,从白细胞中提取DNA,多聚酶链反应(PCR)扩增线粒体DNA目的片断,Alw26I限制性内切酶检测A1555G点突变,而后对阳性患者的PCR产物进行DNA测序验证。结果:在所有样本中,2例存在mtDNA A1555G点突变,均为维族肾虚血瘀非综合征型遗传性耳聋患者。结论:携带有该突变的个体对氨基糖甙类抗生素的耳毒作用有高度易感性。遗传性耳聋肾虚血瘀型患者较mtDNAA1555G突变非肾虚血瘀型高。但突变检出率比较,差异无显著性意义(P>0.05)。
Objective: To investigate the frequency of mitochondrial 12SrRNA A1555G mutation in Uygur non-syndromic hereditary deafness in Xinjiang and its relationship with deficiency of kidney and blood stasis type. Methods: Fifty-one patients with non-syndromic hereditary deafness were collected in Xinjiang. Among them, Kidney deficiency and blood stasis type accounted for 67% (34/51), and another 53 Uighur normal hearing persons were selected as control. Peripheral venous blood was extracted, DNA was extracted from white blood cells, mitochondrial DNA was amplified by polymerase chain reaction (PCR), A1555G point mutation was detected by Alw26I restriction endonuclease, and then DNA sequencing was performed on PCR products of positive patients. Results: In all samples, there were two cases of mtDNA A1555G point mutations, all of them were Hereditary Kidney Deficiency Hereditary Deafness. CONCLUSIONS: Individuals carrying this mutation are highly susceptible to ototoxicity of aminoglycoside antibiotics. Hereditary deafness kidney deficiency and blood stasis type than mtDNAA1555G mutation non-kidney deficiency and blood stasis type. However, the mutation detection rate comparison, no significant difference (P> 0.05).