浙江预防医学
浙江預防醫學
절강예방의학
ZHEJIANG JOURNAL OF PREVENTIVE MEDICINE
2015年
1期
28-31
,共4页
余红%刘丹%杨晶群%吴志强
餘紅%劉丹%楊晶群%吳誌彊
여홍%류단%양정군%오지강
新生儿%听力筛查%耳聋基因%筛查
新生兒%聽力篩查%耳聾基因%篩查
신생인%은력사사%이롱기인%사사
Newborn%Hearing screening%Deafness gene%Screening
目的：探讨新生儿听力与耳聋易感基因联合筛查的模式。方法应用飞行时间质谱技术对新生儿进行听力初筛，通过的1028名为对照组，未通过的514名为实验组，进行GJB2、GJB3、线粒体12srRNA和SLC26A4等4个常见耳聋易感基因的检测，检测位点包含4个基因的20个热点突变。结果514名实验组新生儿中，检出耳聋基因突变40例，阳性率7.78%，其中致病突变7例（GJB2235delC纯合突变1例，GJB3538C→T杂合突变6例），阳性率1.36%；杂合突变33例，阳性率6.62%。1028名对照组新生儿中，检出耳聋基因突变45例，阳性率4.38%，其中致病突变3例（rRNA1555A→G纯合突变1例，GJB3538C→T杂合突变和547G→A杂合突变各1例），阳性率0.29%；杂合突变42例，阳性率4.09%；听力初筛未通过婴儿的耳聋基因阳性率、致病突变率和杂合携带率均明显高于初筛通过婴儿，差异有统计学意义（ p均<0.05）。结论听力初筛未通过新生儿可作为目标人群进行耳聋易感基因筛查，鉴于通过听力初筛的新生儿中仍有较高的耳聋基因阳性率，建议有条件的地区应开展新生儿听力和耳聋易感基因的联合筛查。
目的：探討新生兒聽力與耳聾易感基因聯閤篩查的模式。方法應用飛行時間質譜技術對新生兒進行聽力初篩，通過的1028名為對照組，未通過的514名為實驗組，進行GJB2、GJB3、線粒體12srRNA和SLC26A4等4箇常見耳聾易感基因的檢測，檢測位點包含4箇基因的20箇熱點突變。結果514名實驗組新生兒中，檢齣耳聾基因突變40例，暘性率7.78%，其中緻病突變7例（GJB2235delC純閤突變1例，GJB3538C→T雜閤突變6例），暘性率1.36%；雜閤突變33例，暘性率6.62%。1028名對照組新生兒中，檢齣耳聾基因突變45例，暘性率4.38%，其中緻病突變3例（rRNA1555A→G純閤突變1例，GJB3538C→T雜閤突變和547G→A雜閤突變各1例），暘性率0.29%；雜閤突變42例，暘性率4.09%；聽力初篩未通過嬰兒的耳聾基因暘性率、緻病突變率和雜閤攜帶率均明顯高于初篩通過嬰兒，差異有統計學意義（ p均<0.05）。結論聽力初篩未通過新生兒可作為目標人群進行耳聾易感基因篩查，鑒于通過聽力初篩的新生兒中仍有較高的耳聾基因暘性率，建議有條件的地區應開展新生兒聽力和耳聾易感基因的聯閤篩查。
목적：탐토신생인은력여이롱역감기인연합사사적모식。방법응용비행시간질보기술대신생인진행은력초사，통과적1028명위대조조，미통과적514명위실험조，진행GJB2、GJB3、선립체12srRNA화SLC26A4등4개상견이롱역감기인적검측，검측위점포함4개기인적20개열점돌변。결과514명실험조신생인중，검출이롱기인돌변40례，양성솔7.78%，기중치병돌변7례（GJB2235delC순합돌변1례，GJB3538C→T잡합돌변6례），양성솔1.36%；잡합돌변33례，양성솔6.62%。1028명대조조신생인중，검출이롱기인돌변45례，양성솔4.38%，기중치병돌변3례（rRNA1555A→G순합돌변1례，GJB3538C→T잡합돌변화547G→A잡합돌변각1례），양성솔0.29%；잡합돌변42례，양성솔4.09%；은력초사미통과영인적이롱기인양성솔、치병돌변솔화잡합휴대솔균명현고우초사통과영인，차이유통계학의의（ p균<0.05）。결론은력초사미통과신생인가작위목표인군진행이롱역감기인사사，감우통과은력초사적신생인중잉유교고적이롱기인양성솔，건의유조건적지구응개전신생인은력화이롱역감기인적연합사사。
Objective To evaluate the effectiveness of newborn screening of hearing combined with deafness predisposing genes. Methods Through screening,514 newborns who may had the problem of hearing were classified as experimental group and the other 1 028 newborns were classified as control group by MALDI-TOF. Detecting the predisposing genes of GJB2,GJB3,12SrRNA,SLC26A4 including 20 hot spot mutations for these newborns. Results Among 514 subjects, 40 cases were found with deafness gene mutations,and the positive rate was 7. 47%. 7 cases were pathogenic mutation(1 was GJB2 235delC homozygous mutation,6 were GJB3 538C→T heterozygous mutation ),with the rate of 1. 36%,and 33 cases were heterozygous carrier,with the rate of 6. 62%. Among the control group,45 cases were found with deafness gene mutations,and the positive rate was 4. 38%. 3 cases were pathogenic mutation(1 was 12srRNA 1555A→G homozygous mutation,1 was GJB3 538C→T heterozygous mutation,1 was GJB3 547G→A heterozygous mutation),with the rate of 0. 29%,and 42 cases were carriers of heterozygous gene,with the rate of 4. 09%. The positive rate,the pathogenic mutation rate and the heterozygous carry rate of experimental group were higher than that of control group ,and the differences were significant(all p<0. 05). Conclusion The newborns who did not pass the hearing screening should be the target population for test of the deafness predisposing genes. Since the positive rate were still high,if condition permitted,the screening of hearing combined with deafness predisposing genes should be carried out in some areas.
