中华医学遗传学杂志
中華醫學遺傳學雜誌
중화의학유전학잡지
CHINESE JOURNAL OF MEDICAL GENETICS
2015年
3期
335-338
,共4页
余红%刘丹%杨晶群%吴志强%孙冬梅%马卧龙
餘紅%劉丹%楊晶群%吳誌彊%孫鼕梅%馬臥龍
여홍%류단%양정군%오지강%손동매%마와룡
耳聋基因%突变位点%筛查
耳聾基因%突變位點%篩查
이롱기인%돌변위점%사사
Deafness-related gene%Mutation hot spots%Screening
目的 通过调查浙江省绍兴地区2725名新生儿中常见耳聋基因GJB2、GJB3、线粒体12SrRNA和SLC26A4的20个热点突变的携带率、突变类型及其与听力的相关性,为大规模开展聋病基因筛查提供科学依据.方法 应用基质辅助激光解吸电离飞行时间质谱技术(matrix-assisted laser desorptionionization-time of flight-mass spectrometry,MALDI-TOF-MS)进行热点突变检测.结果 2725名新生儿中共检测出突变149例,阳性率5.47%:其中GJB2突变84例,阳性率3.08%;GJB3突变13例,阳性率0.48%;SLC26A4突变49例,阳性率1.80%;线粒体12SrRNA突变3例,阳性率0.11%.检出突变位点共14个,突变频率由高到低依次是GJB2 c.235delC 65例、SLC26A4 IVS7-2A>G 34例、GJB2c.299-300delAT 13例、GJB3 c.538C>T 7例、GJB2 c.176_191del16 6例和GJB3 c.547G>A 6例.结论 常见耳聋基因在绍兴地区新生儿中有较高的阳性率,扩大筛查位点可提高筛查阳性率和突变位点的检出率.除GJB2、线粒体12S rRNA和SLC26A4外,本地区GJB3突变亦有较高的检出率,可能在耳聋发生中起重要作用.
目的 通過調查浙江省紹興地區2725名新生兒中常見耳聾基因GJB2、GJB3、線粒體12SrRNA和SLC26A4的20箇熱點突變的攜帶率、突變類型及其與聽力的相關性,為大規模開展聾病基因篩查提供科學依據.方法 應用基質輔助激光解吸電離飛行時間質譜技術(matrix-assisted laser desorptionionization-time of flight-mass spectrometry,MALDI-TOF-MS)進行熱點突變檢測.結果 2725名新生兒中共檢測齣突變149例,暘性率5.47%:其中GJB2突變84例,暘性率3.08%;GJB3突變13例,暘性率0.48%;SLC26A4突變49例,暘性率1.80%;線粒體12SrRNA突變3例,暘性率0.11%.檢齣突變位點共14箇,突變頻率由高到低依次是GJB2 c.235delC 65例、SLC26A4 IVS7-2A>G 34例、GJB2c.299-300delAT 13例、GJB3 c.538C>T 7例、GJB2 c.176_191del16 6例和GJB3 c.547G>A 6例.結論 常見耳聾基因在紹興地區新生兒中有較高的暘性率,擴大篩查位點可提高篩查暘性率和突變位點的檢齣率.除GJB2、線粒體12S rRNA和SLC26A4外,本地區GJB3突變亦有較高的檢齣率,可能在耳聾髮生中起重要作用.
목적 통과조사절강성소흥지구2725명신생인중상견이롱기인GJB2、GJB3、선립체12SrRNA화SLC26A4적20개열점돌변적휴대솔、돌변류형급기여은력적상관성,위대규모개전롱병기인사사제공과학의거.방법 응용기질보조격광해흡전리비행시간질보기술(matrix-assisted laser desorptionionization-time of flight-mass spectrometry,MALDI-TOF-MS)진행열점돌변검측.결과 2725명신생인중공검측출돌변149례,양성솔5.47%:기중GJB2돌변84례,양성솔3.08%;GJB3돌변13례,양성솔0.48%;SLC26A4돌변49례,양성솔1.80%;선립체12SrRNA돌변3례,양성솔0.11%.검출돌변위점공14개,돌변빈솔유고도저의차시GJB2 c.235delC 65례、SLC26A4 IVS7-2A>G 34례、GJB2c.299-300delAT 13례、GJB3 c.538C>T 7례、GJB2 c.176_191del16 6례화GJB3 c.547G>A 6례.결론 상견이롱기인재소흥지구신생인중유교고적양성솔,확대사사위점가제고사사양성솔화돌변위점적검출솔.제GJB2、선립체12S rRNA화SLC26A4외,본지구GJB3돌변역유교고적검출솔,가능재이롱발생중기중요작용.
Objective To screen for common mutations of deafness-related genes in order to determine the carrier rate,types of mutation,and their relevance to hearing loss.Methods For 4 deafness-related genes GJB2,GJB3,12S rRNA and SLC26A4,20 common mutations were screened among 2725 newborns from Shaoxing,Zhejiang by matrix-assisted laser desorption ionization-time of flight-mass spectrometry.Results Among the 2725 newborns,149 (5.47%) were diagnosed with mutations,which included 84 (3.08%) with GJB2 mutations,13 (0.48%) with GJB3 mutations,49 (1.80%) with SLC26A4 mutations and 3 (0.11%) with 12S rRNA mutations.Fourteen mutational hotspots were identified.The most common mutations have included GJB2 c.235delC (65 cases),SLC26A4 IVS7-2A>G (34 cases),GJB2 c.299 300delAT (13 cases),GJB3 c.538C>T (7 cases),GJB2 c.176_191del16 (6 cases) and GJB3 c.547G>A (6 cases).Conclusion The detecting rate for deafness-related gene mutations has been relatively high.To broaden the screening spectrum may improve such rate.Besides GJB2,12S rRNA,SLC26A4,GJB3 also features a high mutation rate in the region.