中国妇幼健康研究2017，Vol.28Issue(2)：156-159,4.DOI:10.3969/j.issn.1673-5293.2017.02.019
新生儿听力与聋病易感基因联合筛查模式探讨
Discussion of combined screening model for newborns hearing and deafness predisposing genes
摘要
Abstract
Objective To perform hearing and deafness predisposing genes combined screening for newborns by using physical audiometry technology and time of flight mass spectrometry ( TOF-MS) detection and to establish an easily extended standardized model of newborns hearing and genes combined screening. Methods Totally 6763 newborns born during July 2014 to July 2015 in 4 maternity hospitals in Futian District of Shenzhen were selected. After informed consent of neonatal guardians, they accepted hearing and deafness predisposing genes combined screening. The results were statistically analyzed. And standardized model of newborns hearing and genes combined screening was established preliminarily. Results Among 6763 newborns, the detection rate of GJB2 gene was 1. 83%, that of SLC26A4 gene was 1. 60%, that of mitochondria 12SrRNA gene was 0. 55%, and that of GJB3 gene was 0. 49%. The fail rate of hearing screening in newborns with GJB2 gene was 32. 2%. A total of 24 cases with SLC26A4 gene didn't pass the hearing screening, while 84 cases with SLC26A4 gene passed the primary hearing screening. Among 37 cases with mitochondria 12SrRNA genetic mutations who didn' t pass genetic screening, 28 of 30 cases with m. 1555A>G mutation passed the hearing screening, accounting for 75. 68%, and the other seven cases with m. 1494C>T all passed the hearing screening, accounting for 18. 92%. Among the 33 cases with GJB3 genetic mutations who didn't pass genetic screening, 18 cases didn't pass GJB3538C>T and 15 cases passed the hearing screening, accounting for 45. 45%, while the other 15 cases didn' t pass GJB3547G>A but 12 cases passed the hearing screening, accounting for 36. 36%. There were significant differences in hearing screening between the normal and abnormal neonates in genetic testing (χ2 =12. 502, P =0. 006 <0. 05). Conclusion Combining newborns hearing screening and deafness predisposing genes screening and preliminarily establishing a new model for the prevention and control of deafness to intervene and follow-up in early detected high-risk group with delayed or drug induced gene can make up for hearing screening deficiencies at the genetic level. It is of great application value and significance.关键词
新生儿/听力筛查/耳聋基因/联合筛查Key words
newborn/hearing screening/deafness genes/combined screening分类
医药卫生引用本文复制引用
王世媛,孙晓勉,陆洋,黄旭丽..新生儿听力与聋病易感基因联合筛查模式探讨[J].中国妇幼健康研究,2017,28(2):156-159,4.基金项目
深圳市科创委知识创新计划资助项目(项目编号JCYJ20140415094713859) （项目编号JCYJ20140415094713859）
