摘要
目的分析厦门市321例听力障碍人群常见耳聋基因携带情况,探讨厦门地区开展耳聋基因筛查的意义。方法选择2018年6月—2020年4月厦门市特殊教育学校听力障碍人群、厦门市海沧医院就诊听力障碍患者321例作为研究对象,所有人均采集外周静脉血2 ml,采用4个耳聋基因(GJB2、SLC26A4、12S rRNA和GJB3)15个位点的基因芯片进行基因检查,对耳聋基因突变携带者进行基因分析。结果检查发现耳聋基因突变携带者共164例。GJB2携带73例(44.51%),其中纯合突变25例(15.24%),复合杂合纯合突变5例(3.05%),以c.235delC突变为主。SLC26A4携带72例(43.9%),其中纯合突变19例(11.59%),复合杂合纯合突变5例(3.05%),以c.919-2>G突变为主。线粒体12S rRNA突变17例(10.37%),为均质突变,以m.1555>G突变为主。GJB3携带2例(1.22%),为杂合突变,突发性耳聋患者。结论厦门地区耳聋患者携带的耳聋基因以GJB2和SLC26A4为主,聋病易感基因筛查对发现耳聋和迟发性耳聋患者及发病原因有重要意义。
Objective To analyze the carrying of common gene that induced deafness in 321 hearing impaired people in Xiamen,and to discuss the significance of carrying out screening the gene that induced deafness in Xiamen.Methods 321 patients with hearing impairment those from Xiamen special education school and Xiamen Haicang hospital were enrolled as study subjects,2 ml of peripheral venous bloodwere collected from those people.Gene chips containing 15 loci of 4 genes that induce deafness(GJB2,SLC26 A4,12 S rRNA and GJB3)were used for gene examination,and gene analysis was performed on deaf gene mutation carriers.Results 164 people were found to have the variant deaf gene.There were 73(44.51%)patients carryingGJB2,including 25(15.24%)homozygous variants and 5(3.05%)compound heterozygous variants,c.235 delC was mainlyvariants.There were 72(43.9%)patients carryingSLC26 A4,including 19(11.59%)homozygous variants and 5(3.05%)compound heterozygous variants,c.919-2>G was the mainlyvariants.There were 17(10.37%)patients with mitochondrial 12 S rRNAvariants,which were homogeneous variants,mainly m.1555>G variants.There were 2(1.22%)patients with GJB3,they were heterozygous variants and with sudden deafness.Conclusions GJB2 and SLC26 A4 are the main deaf genes carried by deafness patients in Xiamen area.The screening of genes susceptible to deafness disease is of great significance for deafness patients and delayed deafness patients as well as the causes of deafness.
作者
叶辉
纪速碟
王伊梦
刘静
YE Hui(Department of otorhinolaryngology head and neck surgery,Xiamen Haicang hospital,Xiamen,Fujian,361026,China)
出处
《齐齐哈尔医学院学报》
2020年第24期3120-3123,共4页
Journal of Qiqihar Medical University
基金
厦门市科技计划医疗卫生项目(3502Z20189051)
厦门市海沧区科技项目(350205Z20174003)。
