新生儿GJB2基因筛查及听力随访的意义

发布时间：2018-06-28 02:55

本文选题：GJB + 突变　；参考：《临床耳鼻咽喉头颈外科杂志》2015年04期

【摘要】：目的:分析新生儿耳聋基因GJB2突变携带率及听力学表型,为更有效进行新生儿耳聋基因筛查提供依据。方法:选取2012-03-2013-12北京市新生儿血样23 836例,使用遗传性聋基因检测试剂盒重点筛查GJB2常见4个突变位点(c.35delG,c.176_191del16,c.235delC,c.299_300delAT)。通过追访和遗传门诊咨询综合分析新生儿耳聋基因结果及听力表型。结果:新生儿群体中,仅携带GJB2致病突变者共计622例(2.61%),其中携带单个c.35delG突变3例,c.176_191del16突变26例,c.235delC 467例,c.299_300delAT突变120例,同时明确5例c.235delC纯合子及1例c.235delC/c.299_300delAT复合杂合病例。通过电话及短信成功追访新生儿550例,追访成功率为88.6%。以前来遗传门诊咨询新生儿325例为研究对象,其听力初筛未通过率为13.8%(45/325),复筛未通过率为9.2%(30/325)。3月龄即明确诊断为不同程度听力损失者9例(2.8%,9/325),包括GJB2纯合/复合杂合病例6例和GJB2携带者3例。结论:GJB2导致耳聋表型多变,部分病例可通过听力筛查。GJB2致病突变的携带者也可表现为听力损失,需密切随访。耳聋基因筛查可通过预警有效提前GJB2导致耳聋的确诊时间。
[Abstract]:Objective: to analyze the frequency of GJB2 mutation and audiotypic phenotype of neonatal deafness gene, and to provide evidence for more effective screening of neonatal deafness gene. Methods: 23 836 blood samples from Beijing neonates from 2012-03-2013-12 were selected and four common mutation loci of GJB2 were screened by genetic deafness gene test kit (c. 35delGn c. 176T 191del16 c 235delCtrop c 299300delAT). The genetic results and hearing phenotype of newborns with deafness were analyzed by follow-up and outpatient consultation. Results: there were 622 cases (2.61%) with only GJB2 mutation in neonatal population. Among them, 3 cases were single c.176191del16 mutation, 26 cases were c.235delC 467 cases, 120 cases were c.299300delAT mutation, 5 cases were identified as c. 235delC homozygote and 1 case c. 235delC / c.299300delAT heterozygous case. 550 newborns were successfully tracked by telephone and SMS, and the success rate was 88.6B. In the past, 325 newborns were consulted in genetic outpatient clinics. The unpass rate of primary screening was 13.8% (45 / 325), and the rate of repeated screening was 9.2% (30 / 325). 9 cases (2.8 / 9325) were diagnosed as hearing loss at the age of 3.3-month, including 6 cases of GJB2 homozygous / compound heterozygous cases and 3 cases of GJB2 carriers. Conclusion the phenotype of deafness is variable due to the presence of: GJB2, and some of the cases can also show hearing loss by hearing screening. It is necessary to follow up closely. Genetic screening of deafness can effectively advance the time of diagnosis of deafness caused by GJB2 by early warning.
【作者单位】：中国医学科学院北京协和医学院北京协和医院耳鼻咽喉科;
【基金】：“十二五”国家科技支撑计划资助项目(No:2012BAI12B01) 北京市自然科学基金面上项目(No:7122141)
【分类号】：R764.43

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