广西新生儿遗传性非综合征型耳聋基因筛查

Gene screening of neonatal non-syndromic hereditary hearing loss in Guangxi

目的应用基质辅助激光解吸电离飞行时间质谱(MALDI-TOF-MS)技术检测广西新生儿遗传性非综合征型耳聋(NSHI)基因突变基因,探讨耳聋基因筛查在临床中应用的有效性和可行性。方法对7 100例出生的新生儿采用自动判别听性脑干诱发电位(AABR)进行听力初筛和复筛,并通过足跟血斑提取基因组DNA,采用MALDI-TOF-MS进行4个耳聋易感基因20个突变位点检测。结果7 100例新生儿听力初筛通过率为97.11%(6 895/7 100),新生儿基因突变阳性率为3.54%(251/7 100),其中GJB2基因突变131例,携带率为1.84%,235delC杂合突变108例。SLC26A4基因突变93例,以1229C>T杂合突变和IVS7-2A>G杂合突变为主,mtDNA12SRNA基因突变16例,GJB3基因突变11例。结论采用MALDI-TOF-MS技术筛查可提高常见耳聋相关基因热点突变检出率,从分子水平发现新生儿遗传性NSHI,可为早期发现、预测耳聋的发生及制订干预措施提供相应的遗传咨询指导。

Objective To use the matrix assisted laser desorption ionization time of flight mass spectrometry（MALDI-TOFMS）technique for detecting the mutation gene of neonatal non-syndromic hereditary hearing impairment gene in Guangxi and to investigate its effectiveness and feasibility in clinical application.Methods A total of 7 100 newborns were performed the hearing preliminary screening and secondary screening by adopting AABR.The genomic DNA was extracted by the heel blood spot.Twenty mutation characteristics of 4deaf predisposing genes were detected by MALDI-TOF-MS.Results The pass rate of hearing screening in 7 100 newborns was 97.11%（6 895/7 100）,the positive rate of neonatal gene mutation was 3.54%（251/7 100）,in which the GJB2 gene mutation was in 131 cases,the carrying rate was 1.84%,235 delC heterozygous mutation was in 108 cases.SLC26A4gene mutation was in 93 cases,which dominated by 1229C〉T heterozygous mutation and IVS7-2A〉G heterozygous mutation,mtDNA12 SRNA gene mutation was in 16 cases and GJB3 gene mutation was in 11 cases.Conclusion Adopting the MALDI-TOFMS screening technique can increase the detection rate of hot point mutation in common deaf related genes and discover neonatal genetic NSHI from molecular level and provides the corresponding genetic consulting guidance for early finding and predicting deaf occurrence,and formulating the interventional measures.