NICU新生儿耳聋易感基因突变筛查分析

发布时间：2018-04-29 18:06

本文选题：GJB2 + GJB3　；参考：《福建医科大学》2016年硕士论文

【摘要】：目的:通过调查NICU新生儿常见耳聋基因GJB2、GJB3、SLC26A4及mtDNA12SrRNA的18个突变热点的携带率、突变类型及其与听力的相关性,为开展聋病基因筛查提供科学依据。材料及方法:以2013年11月~2014年4月期间我院产科出生后并入住NICU的113例新生儿为研究对象,收集其瞬态诱发耳声发射(TEOAE)和自动听性脑干反应(AABR)的结果及身份基本信息(胎龄、体重、围产期高危因素、监护人电话、住址等),并在出生后3天至出院前待病情稳定后采集新生儿足跟血(共3枚血斑,血斑直径均大于8毫米)用于送深圳华大基因实验室对4种基因(GJB2、GJB3、SLC26A4及mt DNA12SrRNA)18个突变位点(35delG、167delT、176_191del16、235delC、299_300delAT、538CT、547GA、SLC26A4、281CT、589GA、IVS7-2AG、1174AT、1226GA、1229CT、IVS15+5GA、1975GC、2027TA、1494CT、1555AG)进行飞行时间质谱分析筛查。结果:113例新生儿中102例接受完整听力筛查,未通过听力初筛7例,初筛未通过率为6.86%(7/102),其中左耳未通过2例,右耳未通过4例,双耳未通过1例。113例全部接受耳聋易感基因筛查,共检出耳聋易感基因突变6例,总检出率为5.31%(6/113):其中GJB2上突变的4例均为235delC突变,突变率3.54%(4/113),听力筛查(TEOAE及AABR)3例双耳均通过,1例检出右耳未通过;GJB3在538CT位点发现1例突变,双耳听力筛查均通过;SLC26A4在IVS7-2AG上发现1例突变,双耳听力筛查均通过,GJB3及SLC26A4突变率均是0.88%(1/113);mt DNA12SrRNA上1494CT、1555AG位点未检测出突变。听力筛查通过与未通过者耳聋基因携带率之间差异没有统计学意义(P=0.360.05)。结论:NICU新生儿常见耳聋基因检出率位于国内平均水平内。耳聋高危基因的检测可以对突变基因携带者做到早期发现、早期预防、早期治疗,减少发病率、致残率,并能帮助父母正确认识疾病,指导家属及医生对听力损失患儿选择合适的治疗方案,预测患儿后代发病率,加强携带者产前基因咨询意识,故应积极在新生儿尤其是NICU新生儿中开展UNHS及聋病易感基因筛查。本研究的耳聋基因筛查为将来耳聋基因筛查位点的选择及确定提供了科学依据。
[Abstract]:Objective: To investigate the carrying rate of 18 sudden deafness genes of NICU, GJB3, SLC26A4 and mtDNA12SrRNA, and to provide scientific basis for gene screening for hearing loss by investigating the carrying rates of 18 sudden deafness genes GJB2, GJB3, SLC26A4 and mtDNA12SrRNA. The results of transient evoked otoacoustic emission (TEOAE) and automatic auditory brainstem response (AABR) were collected, and the basic information (gestational age, weight, perinatal risk factors, guardians telephone, address, etc.) was collected, and the newborn heel blood was collected from 3 days after birth to the condition of the hospital (3 blood spots, the diameter of the plaque was greater than 8 milli. " GJB2, GJB3, SLC26A4 and MT DNA12SrRNA (35delG, 167delT, 176_191del16235delC, 299_300delAT, 538CT, 547GA, DNA12SrRNA) were used to screen the 4 genes (35delG, 167delT, 176_191del16235delC, 299_300delAT, 538CT, 547GA). Of the 113 newborns, 102 received complete hearing screening, without hearing screening in 7 cases, the initial screening rate was 6.86% (7/102), of which 2 cases were not passed in the left ear, 4 cases were not passed in the right ear and 1 cases of.113 were not passed through 1 cases, and 6 cases of deafness susceptible gene mutation were detected, the total detection rate was 5.31% (6/113): on GJB2 4 cases of mutation were 235delC mutation, the mutation rate was 3.54% (4/113), 3 cases of hearing screening (TEOAE and AABR) were passed, 1 cases were detected in the right ear, 1 mutations were found at the 538CT site, and all of the hearing screening were passed through the 538CT site; SLC26A4 was found on IVS7-2AG, the hearing screening was all passed, GJB3 and SLC26A4 mutation rates were 0.88% (1/113); m was 0.88% (1/113); m was 0.88% (1/113); m There was no mutation in the 1494CT and 1555AG loci on the t DNA12SrRNA. There was no statistical difference between hearing screening and the deafness gene carrying rate (P=0.360.05). Conclusion: the common deafness gene detection rate in NICU neonates is within the domestic average. The detection of the high risk genes for deafness can be done early in the mutant gene carriers. It is found that early prevention, early treatment, reduction of morbidity and disability rate, and help parents to correctly recognize the disease, guide families and doctors to choose appropriate treatment schemes for children with hearing loss, predict the incidence of children's offspring, and strengthen the awareness of prenatal gene counseling for the carriers, so UNHS and deafness should be actively carried out in newborns, especially in NICU newborns. Screening for disease susceptibility genes. This study provides a scientific basis for screening and identifying deafness gene screening sites in the future.

【学位授予单位】：福建医科大学
【学位级别】：硕士
【学位授予年份】：2016
【分类号】：R764.43

【相似文献】