邢台市聋哑学生线粒体DNA C1494T和A1555G突变分析
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摘要
目的调查邢台市聋哑学校耳聋患者线粒体DNA m.C1494T和m.A1555G突变情况。方法对2013-2014年河北省邢台市聋哑学校的115例耳聋学生进行遗传性耳聋问卷调查、体格检查和听力学评估。采用Sanger测序法检测线粒体12SrRNA m.C1494T和m.A1555G两个突变位点。结果 2例(1.7%)携带线粒体DNA m.A1555G均质性突变,1例(0.9%)携带线粒体DNA m.C1494T均质性突变。结论邢台地区线粒体DNA m.A1555G突变发生率与其他地区比较偏低,m.C1494T突变发生率与其他地区比较偏高。在地区性耳聋病因调查中运用基因诊断技术,可以用于早期诊断,遗传咨询和指导该家系成员预防药物性耳聋。
Objective To survey mitochondrial DNA m.C1494 T and m.A1555 G mutations among deaf-mute students from school for the deaf and dumb in Xingtai,Hebei province.Methods Hereditary hearing loss questionnaire survey,physical examination,and audiological evaluation were conducted among 115 deaf-mute students from schools for the deaf and dumb in Xingtai,Hebei province from 2013 to2014.Results Among 115 deaf-mute students,two students(1.7%) carried homoplasmic mutation of mitochondrial DNA m.A1555 G,one student(0.9%) carried homoplasmic mutation of mitochondrial DNA m.C1494 T.Conclusion Compared with other areas,the incidence rate of mitochondrial DNA m.A1555 G mutation in Xingtai area is lower,the incidence rate of mitochondrial DNA m.C1494 T mutation is higher.Gene diagnosis technology in etiological survey of regional deafness can be used for early diagnosis,genetic consultation,and instructing prevention of drug-induced deafness in the families.
Objective To survey mitochondrial DNA m.C1494 T and m.A1555 G mutations among deaf-mute students from school for the deaf and dumb in Xingtai,Hebei province.Methods Hereditary hearing loss questionnaire survey,physical examination,and audiological evaluation were conducted among 115 deaf-mute students from schools for the deaf and dumb in Xingtai,Hebei province from 2013 to2014.Results Among 115 deaf-mute students,two students(1.7%) carried homoplasmic mutation of mitochondrial DNA m.A1555 G,one student(0.9%) carried homoplasmic mutation of mitochondrial DNA m.C1494 T.Conclusion Compared with other areas,the incidence rate of mitochondrial DNA m.A1555 G mutation in Xingtai area is lower,the incidence rate of mitochondrial DNA m.C1494 T mutation is higher.Gene diagnosis technology in etiological survey of regional deafness can be used for early diagnosis,genetic consultation,and instructing prevention of drug-induced deafness in the families.
引文
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[10]Guan MX.Mitochondrial 12S rRNA mutations associated with aminoglycoside ototoxicity[J].Mitochondrion,2011,11(2):237-245.
[11]郑璐,罗光华,张俊,等.碱基淬灭探针技术单管检测线粒体DNA12S rRNA A1555G及C1494T突变[J].中华耳鼻咽喉头颈外科杂志,2012,47(4):326-329.
[12]李雪涛,刘德胜,撒亚莲,等.云南省部分聋生线粒体DNA12S rRNA A1555G和C1494T的突变[J].昆明医科大学学报,2013,34(4):4-7.
[13]林文津,郭舜民,徐榕青,等.荧光定量PCR法检测线粒体基因A1555G与C1494T突变[J].中国医药导报,2013,10(28):159-161.
[14]王国建,袁永一,李荣,等.不同听力学表型人群中常见耳聋基因突变检出率的分析[J].临床耳鼻咽喉头颈外科杂志,2011,25(10):445-448.
[15]Kopke RD,Jackson RL,Coleman JK,et al.NAC for noise:from the bench top to the clinic[J].Hear Res,2007,226(1-2):114-125.
[2]Kokotas H,Petersen MB,Willems PJ.Mitochondrial deafness[J].Clinical Genetics,2007,71(5):379-391.
[3]戴朴.18个省市聋校学生非综合征性聋病分子流行病学研究(Ⅰ)--GJB2 235del C和线粒体DNA 12SrRNA A1555G突变筛查报告[J].中华耳科学杂志,2006,4(1):5.
[4]Petit C,Levilliers J,Hardelin JP.Molecular genetics of hearing loss[J].Annu Rev Genet,2001,35:589-646.
[5]Lu JX.Mitochondrial 12S rRNA variants in 1642 Han Chinese pediatric subjects with aminoglycoside-induced and nonsyndromic hearing loss[J].Mitochondrion,2010,10(4):380-390.
[6]Hu DN,Qui WQ,Wu BT,et al.Genetic-aspects of antibiotic induced deafness-mitochondrial inheritance[J].J Med Genet,1991,28(2):79-83.
[7]Li Z,Li R,Chen J,et al.Mutational analysis of the mitochondrial12S rRNA gene in Chinese pediatric subjects with aminoglycoside-induced and non-syndromic hearing loss[J].Human Genet,2005,117(1):9-15.
[8]Hamasaki K,Rando RR.Specific binding of aminoglycosides to a human rRNA construct based on a DNA polymorphism which causes aminoglycoside-induced deafness[J].Biochemistry,1997,36(40):12323-12328.
[9]Zhao H,Li R,Wang Q,et al.Maternally inherited aminoglycosideinduced and nonsyndromic deafness is associated with the novel C1494T mutation in the mitochondrial 12S rRNA gene in a large chinese family[J].Am J Hum Genet,2004,74(1):139-152.
[10]Guan MX.Mitochondrial 12S rRNA mutations associated with aminoglycoside ototoxicity[J].Mitochondrion,2011,11(2):237-245.
[11]郑璐,罗光华,张俊,等.碱基淬灭探针技术单管检测线粒体DNA12S rRNA A1555G及C1494T突变[J].中华耳鼻咽喉头颈外科杂志,2012,47(4):326-329.
[12]李雪涛,刘德胜,撒亚莲,等.云南省部分聋生线粒体DNA12S rRNA A1555G和C1494T的突变[J].昆明医科大学学报,2013,34(4):4-7.
[13]林文津,郭舜民,徐榕青,等.荧光定量PCR法检测线粒体基因A1555G与C1494T突变[J].中国医药导报,2013,10(28):159-161.
[14]王国建,袁永一,李荣,等.不同听力学表型人群中常见耳聋基因突变检出率的分析[J].临床耳鼻咽喉头颈外科杂志,2011,25(10):445-448.
[15]Kopke RD,Jackson RL,Coleman JK,et al.NAC for noise:from the bench top to the clinic[J].Hear Res,2007,226(1-2):114-125.