脱落细胞线粒体基因A1555G突变在诊断线粒体耳聋中的应用  

Detection of mtDNA A1555G mutation in exfoliated cells for diagnosis of mitochondrial deafness

作　　者：刘奇才[1] 杨滨[1] 陈瑞庆[2] 陈静[1] 商红艳[1] 陈添彬[1] 欧启水[1] 

机构地区：[1]福建医科大学附属第一医院检验科,福州350005 [2]福建医科大学附属第一医院中心实验室,福州350005

出　　处：《临床检验杂志》2012年第2期98-99,102,共3页Chinese Journal of Clinical Laboratory Science

基　　金：国家自然科学基金项目(81041108)

摘　　要：目的用PCR-RFLP技术检测脱落细胞(尿液沉渣细胞和颊黏膜细胞)线粒体基因A1555G突变,探讨脱落细胞用于诊断线粒体基因突变相关耳聋的可行性。方法收集福建省某特殊教育学校126名聋哑学生和1个线粒体基因A1555G突变的遗传性耳聋家系6例患者外周血及尿液沉渣细胞和颊黏膜细胞,用PCR-RFLP技术筛查患者是否携带线粒体DNA A1555G突变,并与测序法进行比较。结果尿液沉渣细胞检测线粒体DNA A1555G突变的检出率最高(9/132),颊黏膜细胞和外周血细胞均为7/132。PCR-RFLP筛查结果与直接测序法基本相符。结论脱落细胞适用于耳聋相关线粒体DNA A1555G突变检测。Objective To explore the feasibility of detecting mtDNA A1555G mutation in exfoliated cells from urine sediment and buc- cal mucosa ceils by PCR-RFLP for diagnosis of mitochondrial deafness. Methods The DNA of peripheral blood ceils and exfoliated cells from 126 deafness-mutism students in a special school in Fujian Province and 6 patients with hereditary deafness in a pedigree were extracted, and mtDNA A15555G mutation were detected by PCR-RFLP. The resuhs were compared with that of direct sequencing method. Results The rate of A15555G mutation in exfoliated cells was higher than that in peripheral blood cells. The highest muta- tion rate （9/132） was found in urine sediment ceils, followed by buccal mucosa cells and blood cells in both of which mutation rate was 7 of 132. The results of PCR-RFLP screening were consistent with that of direct sequencing. Conclusion The exfoliated cells should be suitable for detecting A1555G mutation in the patients with mitochondria deafness by PCR-RFLP.

关 键 词：耳聋 线粒体DNA A1555G突变 半定量PCR—RFLP技术 脱落细胞 

分 类 号：R394[医药卫生—医学遗传学]