CAJ | 학술논문

目的：了解不同类型感音神经性耳聋患者耳聋基因病理性突变的发生特征。方法收集105例原因不明、非突发性感音神经性耳聋患者及17例听力正常者，实施纯音测听、声导抗测听及脑干诱发电位等听功能检查。采用Ion torrent半导体测序方法，检测GJB2、GJB3、GJB6、KCNQ4和SLC26A4基因的全外显子和线粒体12S rRNA基因的2个突变位点。结果①本组105例患者中48例（45.7%，48/105）检测到病理性耳聋基因突变，其中62.5%(30/48）为GJB2基因突变，31例（64.6%，31/48）为单位点纯合或双位点杂合突变，17例（35.4%，17/48）为单基因单位点突变。②23例双侧极重度感音神经性耳聋者中16例（69.57%，16/23）检出病理性基因突变，其中10例为单基因双位点杂合突变、3例为GJB2 c.235delC纯合突变、3例为单基因单位点突变。③43例双侧对称性感音神经性耳聋者，22例检出病理性基因突变（51.16%，22/43），其中单基因双位点杂合突变12例(27.91%，12/43)，2例(4.65%，2/43)为双基因单位点杂合突变，7例(16.28%，7/43)为单基因单位点突变。④39例单侧极重度、重度感音神经性耳聋患者中，10例（25.64%，10/39）检出病理性突变；其中24例单侧极重度耳聋患者中7例（29.17%，7/24）检出病理性突变，15例单侧重度耳聋患者中3例（20%，3/15）检出病理性突变。结论 GJB2基因双位点杂合突变是最为常见的突变类型；超过半数双侧对称性感音神经性耳聋者可检出病理性基因突变；单侧极重度感音神经性耳聋者病理性基因突变检出率超过1/3。
목적：료해불동류형감음신경성이롱환자이롱기인병이성돌변적발생특정。방법수집105례원인불명、비돌발성감음신경성이롱환자급17례은력정상자，실시순음측은、성도항측은급뇌간유발전위등은공능검사。채용Ion torrent반도체측서방법，검측GJB2、GJB3、GJB6、KCNQ4화SLC26A4기인적전외현자화선립체12S rRNA기인적2개돌변위점。결과①본조105례환자중48례（45.7%，48/105）검측도병이성이롱기인돌변，기중62.5%(30/48）위GJB2기인돌변，31례（64.6%，31/48）위단위점순합혹쌍위점잡합돌변，17례（35.4%，17/48）위단기인단위점돌변。②23례쌍측겁중도감음신경성이롱자중16례（69.57%，16/23）검출병이성기인돌변，기중10례위단기인쌍위점잡합돌변、3례위GJB2 c.235delC순합돌변、3례위단기인단위점돌변。③43례쌍측대칭성감음신경성이롱자，22례검출병이성기인돌변（51.16%，22/43），기중단기인쌍위점잡합돌변12례(27.91%，12/43)，2례(4.65%，2/43)위쌍기인단위점잡합돌변，7례(16.28%，7/43)위단기인단위점돌변。④39례단측겁중도、중도감음신경성이롱환자중，10례（25.64%，10/39）검출병이성돌변；기중24례단측겁중도이롱환자중7례（29.17%，7/24）검출병이성돌변，15례단측중도이롱환자중3례（20%，3/15）검출병이성돌변。결론 GJB2기인쌍위점잡합돌변시최위상견적돌변류형；초과반수쌍측대칭성감음신경성이롱자가검출병이성기인돌변；단측겁중도감음신경성이롱자병이성기인돌변검출솔초과1/3。
Objective To study the characteristics of sensorineural deafness gene mutations of different types of hearing losses.Methods 105 subjects with agnogenic and non-sudden hearing loss and 17 normal persons were recruited. All subjects received listening functional tests, such as pure tone tests, acoustic impedance audiometry and brainstem evoked potentials. Peripheral blood samples were collected, including GJB2, GJB3, GJB6, KCNQ4 and SLC26A4 and two hot spot mutations of mt DNA 12S rRNA genes were examined, using Ion torrent semi-conductor sequencing method.Results (1) 48 subjects (45.71%,48/105) are found with pathological deafness gene mutations, most of which are GJB2 (30 cases, 62.5%,30/48) and single-gene and single-site mutations(17 cases,35.4%,17/48).(2) 23 subjects are found with bilateral profound deafness, including 16 cases (69.57%, 16/23) of pathological deafness gene mutations, 10 of which are single-gene and double-site heterozygous mutations, 3 of which are GJB2 c.235delC homozygous mutations, and 3 of which are single-gene and single-site mutations.(3) 43 subjects are found with bilateral symmetry sensorineural deafness, including 22 cases (51.16%,22/43) of pathological deafness gene mutations, 12 of which (27.91%,12/43) are single-gene and double-site heterozygous mutations, 2 of which (4.65%,2/43)are double-gene and single-site mutations, and 7 of which(16.28%,7/43) are single-gene and single-site mutations. (4) 39 subjects are found with unilateral severe and profound deafness, including 10 cases (25.64%, 10/39) of pathological gene mutations. Among the 24 subjects with unilateral profound deafness, 7 cases (29.17%, 7/24) are found with pathological gene mutations. Among the 15 subjects with unilateral severe deafness, 3 cases (20%, 3/15) are found with pathological gene mutations.Conclusion GJB2 double-site heterozygous mutation is one of the most common pathological deafness gene mutations, which can be detected in more than half of bilateral sensorineural deafness and 1/3 of unilateral sensorineural deafness.