CAJ | 학술논문

目的：研究感音神经耳聋GJB2、SLC26A4基因致病性突变与内耳CT表型之间的关系，探讨这两种基因检测在诊断感音神经性耳聋患者是否存在内耳畸形方面的作用。方法按DNA测序的方法检测2686例感音神经性耳聋患者GJB2、SLC26A4基因致病性突变情况，以Sennaroglu分类为标准统计以上患者内耳CT表型情况，分析GJB2、SLC26A4基因型与CT表型之间的关系。结果1、2686例患者中共检出GJB2基因致病性突变429例（双等位基因纯合突变220例、复合杂合突变207例、单等位基因显性突变2例），共检出SLC26A4基因致病性突变596例（双等位基因纯合突变169例、复合杂合突变427例）。2、2686例患者中内耳畸形873例（Mondini畸形371例、单纯大前庭水管338例、其它164例）；内耳CT正常1813例。3、GJB2基因致病性突变99.30%（426/429）在内耳CT正常组中检出，SLC26A4基因致病性突变100%（596/596）在前庭水管扩大相关内耳畸形中检出。结论 GJB2基因致病性突变与内耳正常CT表型密切相关；SLC26A4基因致病性突变与前庭水管扩大相关内耳畸形密切相关。
목적：연구감음신경이롱GJB2、SLC26A4기인치병성돌변여내이CT표형지간적관계，탐토저량충기인검측재진단감음신경성이롱환자시부존재내이기형방면적작용。방법안DNA측서적방법검측2686례감음신경성이롱환자GJB2、SLC26A4기인치병성돌변정황，이Sennaroglu분류위표준통계이상환자내이CT표형정황，분석GJB2、SLC26A4기인형여CT표형지간적관계。결과1、2686례환자중공검출GJB2기인치병성돌변429례（쌍등위기인순합돌변220례、복합잡합돌변207례、단등위기인현성돌변2례），공검출SLC26A4기인치병성돌변596례（쌍등위기인순합돌변169례、복합잡합돌변427례）。2、2686례환자중내이기형873례（Mondini기형371례、단순대전정수관338례、기타164례）；내이CT정상1813례。3、GJB2기인치병성돌변99.30%（426/429）재내이CT정상조중검출，SLC26A4기인치병성돌변100%（596/596）재전정수관확대상관내이기형중검출。결론 GJB2기인치병성돌변여내이정상CT표형밀절상관；SLC26A4기인치병성돌변여전정수관확대상관내이기형밀절상관。
Objects Study on the relationship between the pathogenic mutations of GJB2、SLC26A4 and CT pheno-types of inner ear. Explore the feasibility of using the method of gene sequence analysis to help CT examination in diagnosing of patients with inner ear malformation. Methods 2686 cases of patients were detected by GJB2 and SLC26A4 with the meth-od of DNA sequence. CT phenotypes of those patients were classified according to the method proposed by Sennaroglu. We analyzed the relationship between the pathogenic mutations of gene and the CT phenotypes. Results 1、429 cases were de-tected with pathogenic mutations of GJB2 (220 cases were homozygous, 207 cases were compound heterozygous and 2 case carried dominant mutation). 596 cases were detected with pathogenic mutations of SLC26A4 (169 cases were homozygous, 427 cases were compound heterozygous). 2、873 cases of inner ear malformations were diagnosed by CT examination(371 cas-es of Mondini malformation, 338 cases of enlarged vestibular aqueduct malformation and 164 cases of other types), normal was 1813 cases. 3、99.30%(426/429) cases carried pathogenic mutation of GJB2 were detected in the normal group and 100%(596/596)cases carried pathogenic mutation of SLC26A4 were detected in the group related to vestibular aqueduct malforma-tion. Conclusion The results suggested that pathogenic mutations of GJB2 is closely related to the CT phenotype of normal and pathogenic mutations of SLC26A4 is closely related to the CT phenotype of vestibular aqueduct malformation.