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【目的】研究非综合征型耳聋患者的GJB2基因突变形式,分析不同突变类型与临床表型的相关性。【方法】对55例非综合征型耳聋患者(年龄1~10岁)进行遗传性耳聋问卷调查以及全面的主客观听力学评估,并进行GJB2基因检测。【结果】55例非综合征型耳聋患者中,7例有家族史,其中2例存在GJB2基因致病突变,占28.6%(2/7);55例患者中有12例检测到GJB2基因致病突变,占21.8%(12/55),其中235delC纯合突变5例,235delC和299-300del AT复合杂合突变3例,79G>A和341A>G纯合突变4例。【结论】上海及周边地区非综合征型耳聋患者的GJB2基因突变率较高,235delC和299-300del AT突变导致极重度和重度听力损失为主,79G>A和341A>G突变导致中度和轻度听力损失为主。
【Objective】 To study the mutation of GJB2 gene in patients with nonsyndromic deafness and to analyze the relationship between different types of mutations and clinical phenotypes. 【Methods】 Fifty-five patients with non-syndromic deafness (aged 1 to 10 years) were investigated by questionnaire of hereditary deafness and comprehensive assessment of subjective and objective audiology. GJB2 gene was also tested. 【Results】 Among the 55 cases of non-syndromic deafness, 7 had family history, of which 2 cases had GJB2 gene mutation, accounting for 28.6% (2/7); of the 55 cases, 12 cases detected GJB2 gene There were 21.8% (12/55) cases of pathological changes, including 235delC homozygous mutation, 3 235delC and 299-300del AT heterozygous mutation, 4 cases of 79G> A and 341A> G homozygous mutation. 【Conclusion】 The prevalence of GJB2 gene mutation is higher in non-syndromic deafness patients in Shanghai and its surrounding areas. The mutation of 235delC and 299-300del AT leads to severe and severe hearing loss. The 79G> A and 341A> G mutations lead to moderate and Mild hearing loss.