云南337名非综合征型聋患者GJB3基因C538T和G547A突变分析  

Mutation analysis of GJB3 538T and G547A in deafness students from Yunnan special educational schools

作　　者：李彦琼[1] 刘德胜 吕超绍 李丽[1] 郑永钦[1] 左荣霞[1] 撒亚莲[1] LI Yan-qiong LIU De-sheng LU Chao shao et al(Institute of Clinical and Basic Medical Sciences, The Affiliated Hospital of Kunming University of Science and Technology （ Yunnan Provincial First People ＇ s Hospital ）, Yunnan Provincial Key Laboratory for Birth Defects and Genetic Diseases , Nunming 650032,Chin)

机构地区：[1]昆明理工大学附属医院(云南省第一人民医院)临床基础医学研究所云南省出生缺陷与遗传病研究重点实验室,云南昆明650032 [2]四川省中医院急诊科,四川成都610075

出　　处：《中国实验诊断学》2016年第12期2024-2026,共3页Chinese Journal of Laboratory Diagnosis

基　　金：国家自然科学基金资助项目(31060155);云南省科技厅-昆明医科大学联合专项应用基础研究项目(2014FB092)

摘　　要：目的探讨云南省部分特教学校聋生携带GJB3基因C538T和G547A的突变率。方法采集337名非综合征型耳聋学生及150名健康人群的外周静脉血,提取基因组DNA,PCR扩增含GJB3基因C538T和G547A的基因片段,扩增产物经直接测序进行基因突变位点的检测及鉴定。结果在337名耳聋学生和150名健康人群中未检测到GJB3基因C538T和G547A的突变。结论 GJB3基因C538T和G547A可能不是该地区非综合征型耳聋患者的突变热点,为进一步开展耳聋基因的筛查研究提供重要信息。Objective Objective To explore the gene mutations of GJB3 C538T and G547A in Yunnan special educa-tional schools with non-syndromic hearing impairment students.Methods Genomic DNA was isolated from peripheral blood of 337 students with hearing impairment and 150 healthy controls.The polymerase chain reaction （PCR）was performed with one pair of primer in the subjec’s DNA fragments of GJB3,and subsequently its products was analyzed by direct sequencing to identify mutations spots including GJB3 C538T and G547A.Results There were no mutation of GJB3 C538T and G547A in deafness students with non-syndromic hearing impairment as well as in the control group. Conclusion It may imply that GJB3 C538T and G547A were not mutation spots in the area of Yunnan province.The results provide important information for development gene screening in the deafness patients.

关 键 词：聋 GJB3基因 突变 测序 

分 类 号：R764.43[医药卫生—耳鼻咽喉科]