【摘要】 目的分析GJB2基因热点突变在耳聋及耳聋高危人群中的突变谱和突变频率。方法收集2014年11月~2017年3月江苏地区耳聋患者59例及耳聋高危人群49例,应用荧光PCR法对其进行GJB2基因的4个热点突变位点筛查,分析突变数据,通过直接测序法验证其全部检测结果。结果 108例研究对象中,检测出GJB2基因突变共84例,检出率为77.78%。其中c.235del C、c.299-300del AT、c.176del16bp和c.512ins AACG检出率分别为62.96%(68/108)、17.59%(19/108)、13.89%(15/108)和0.93%(1/108)。耳聋患者中GJB2 c.235del C纯合突变和GJB2双等位基因突变发生率分别为30.51%(18/59)和28.81%(17/59),耳聋高危人群中未发现纯合突变和双等位基因突变。进一步采用直接测序法验证全部检测结果,其结果与荧光PCR法一致。结论在本研究中c.235del C是最常见的热点突变,GJB2 c.235del C纯合突变是最为常见的分子致病因素,其次是GJB2双等位基因突变。更多还原

【Abstract】 Objective To analyze the mutation frequency and spectrum of GJB2 gene hotspot mutations in the deafness patients and the high risk population.Methods There were 59 cases of deafness patients and 49 cases of high risk population in Jiangsu who were collected from November 2014 to March 2017.Four common mutations of GJB2 gene were detected by fluorescencence PCR technique.The mutation data were analyzed and summarized,and all results were further validated by Sanger sequencing.Results Allelic variants were observed in 84 of the 108 subjects with a positive rate of 77.78%(84/108).The incidences of c.235 del C,c.299-300 del AT,c.176 del16 bp and c.512 ins AACG were 62.96%(68/108),17.59%(19/108),12.96%(14/108) and 0.93%(1/108) respectively.The carrying rates of homozygous genes in GJB2 c.235 del C and biallelic mutations in GJB2 in the deafness patients were 30.51%(18/59) and 28.81%(17/59).No homozygous genes and biallelic mutations were found in the high risk population.All results further validated by Sanger sequencing showed consistent with those by fluorescence PCR technique.Conclusion In this study,c.235 del C mutation is the hotspot of GJB2 gene mutation.GJB2 c.235 del C homozygous genes are the most common molecular risk factors followed by GJB2 biallelic mutations.更多还原