高危新生儿听力和聋病易感基因联合筛查临床研究精选.pdfVIP

Hans Journal of Biomedicine 生物医学, 2015, 5, 17-22 Published Online April 2015 in Hans. /journal/hjbm /10.12677/hjbm.2015.52003 A Clinical Study of Hearing Concurrent Genetic Screening in High-Risk Newborns 1 1 2 2 2 Zhang Zhang , Yiheng Dai , Zhenan Li , Fengci Yu , Ying Liu 1 Department of Newborn Medicine, Foshan Maternity and Child Health Care Hospital affiliated to Southern Medical University, Foshan Guangdong 2 Department of Otolaryngology Head and Neck Surgery, Foshan Maternity and Child Health Care Hospital affiliated to Southern Medical University, Foshan Guangdong Email: fsyy022@126.com th nd th Received: May 4 , 2015; accepted: May 22 , 2015; published: May 28 , 2015 Copyright © 2015 by authors and Hans Publishers Inc. This work is licensed under the Creative Commons Attribution International License (CC BY). /licenses/by/4.0/ Abstract Objective: To investigate the mutation frequency and types of deafness susceptibility genes (GJB2, 12SrNA, SLC26A4) among high-risk neonates and to discuss the clinic signification of combining the original hearing screening with deafness susceptibility genes screening. Methods: 920 new- borns with risk factors of hearing loss in the neonatology ward were chosen to collect films of heel blood for the study. Eight mutations of three genes (GJB2 35delG, 176-191del16, 235delC, 299-300delAT; SLC26A4 IVS7-2A G, 2168 G; MT 12SrRNA 1494C T, 1555A G) were detected by matrix assister laser desorption/ionization time-of-flight mass spectrometry (MALDI-TOF-MS). Meanwhile,