基于社区先天性聋一级预防模式研究  

Community-based study of the primary prevention model about congenital deafness

作　　者：钮阳 刘梦潇 李志祥 杨蕾 胡清强 王静 张玉婷[1,3] 储九圣 庞秀红 Niu Yang;Liu Mengxiao;Li Zhixiang;Yang Lei;Hu Qingqiang;Wang Jing;Zhang Yuting;Chu Jiusheng;Pang Xiuhong(Department of Otolaryngology Head and Neck Surgery,Taizhou People's Hospital,the Fifth Affiliated Hospital of Nantong University,Taizhou 225300,China;Yangzhou University Medical College,Taizhou 225000,China;Dalian Medical University,Dalian 116027,China)

机构地区：[1]南通大学第五附属医院泰州市人民医院耳鼻咽喉头颈外科,泰州225300 [2]扬州大学医学院,225000 [3]大连医科大学,116027

出　　处：《国际耳鼻咽喉头颈外科杂志》2020年第3期135-140,共6页International Journal of Otolaryngology-Head and Neck Surgery

基　　金：国家自然科学基金青年基金(81700920);江苏省基础研究计划(自然科学基金)(BK20191229);江苏省第五期"333工程"科研项目(BRA2019192);泰州市科技支撑(社会发展)项目(TS201733);江苏省卫生计生委科研课题项目(H201666)。

摘　　要：目的以社区为试点,对社区耳聋高危人群进行常见耳聋基因筛查,以探讨全面、高效、可行的遗传性聋一级预防检测策略和方法。方法对在泰州市海陵区残疾人联合会登记的育龄期内90例耳聋患者及14名听力正常近亲属进行病史采集、影像学及听力学检查,抽取外周血抽提全基因组DNA,利用巢式多聚酶链反应扩增目基因后直接测序的方法,对所有患者进行常见耳聋基因GJB2、SLC26A4、MT-RNR1全序列筛查。通过Sequencher 5.4软件判读检测结果,并以卡片形式告知患者。结果耳聋患者常见耳聋基因的检测率为48.78%,其中GJB2、SLC26A4、线粒体MT-RNR1致病突变的检测率分别为21.11%、16.67%和10%;14名听力正常近亲属中有11名常见耳聋基因携带者,其中GJB2携带率为57.14%,SLC26A4携带率为28.57%,MT-RNR1携带率为14.29%。对1例样本进行检测总成本大约为700元。成功建立了本社区先天性聋一级预防模式。结论本研究联合残疾人联合会和社区,完成了对海陵区耳聋患者及其近亲属的常见耳聋基因筛查及咨询工作,并建立了适合向本市其他社区或省内推广的社区先天性聋一级预防模式。Objective To explore a comprehensive,effective and feasible primary prevention and detection strategy for hereditary deafness,common deafness genes was screened in high-risk population associated with deafness by taking community as a pilot.Methods Medical history,imaging and audiological examination were performed in 90 adult deafness patients who were registered in the Disabled Persons'Federation(DPF)and their 14 unaffected close relatives of Hailing district in Taizhou city.Genomic DNA was extracted from peripheral blood leukocytes.Mutations screening of genes GJB2,SLC26A4 and MT-RNR1 was performed by polymerase chain reaction(PCR)amplification and bidirectional sequencing of all exons and flanking splicing sites.Results were read by software Sequencher 5.4 and were presented to subjects with CARDs.Results The pathogenicity rate of common deafness genes was 48.78%,among which GJB2,SLC26A4 and MT-RNR1 were 21.11%,16.67%and 10%,respectively.The carrier rates of GJB2,SLC26A4,MT-RNR1 were 57.14%,28.75%,14.29%in 11 unaffected close relatives.700 RMB were counted to be the cost of one sample.The primary prevention model of congenital deafness was established successfully.Conclusion In conjunction with the DPF and the community,three common deafness genes were screened in 90 patients and 14 their unaffected close relatives of a community.Counselling were performed in all subjects.The primary prevention model of congenital deafness in community was established successfully.We suggested that this model can be further promoted to other communities in our city or in our province.

关 键 词：聋 基因 社区卫生服务 一级预防 遗传咨询 

分 类 号：R764.43[医药卫生—耳鼻咽喉科]