耳聋及耳聋高危人群中的GJB2基因热点突变分析

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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.235del C, c.299-300delAT, c.176del16bp and c.512insAACG 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.235del 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.235delC mutation is the hotspot of GJB2 gene mutation. GJB2 c.235del C homozygous genes are the most common molecular risk factors followed by GJB2 biallelic mutations.

Key words： GJB2 gene Fluorescence PCR Mutation analysis

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	JIANG Zhixin LIN Ning SHI Hui WANG Lijuan CHEN Wei FENG Jie HUANG Lili WU Yulin XU Haoqin

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JIANG Zhixin LIN Ning SHI Hui WANG Lijuan CHEN Wei FENG Jie HUANG Lili WU Yulin XU Haoqin. Mutation analysis of GJB2 gene in the deafness patients and the high risk population[J]. 中国医药导报, 2017, 14(36): 33-36.

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http://www.yiyaodaobao.com.cn/EN/ OR http://www.yiyaodaobao.com.cn/EN/Y2017/V14/I36/33

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