新生儿常见耳聋基因突变热点及对听力的影响

doi:10.6040/j.issn.1673-3770.0.2022.539

摘要/Abstract

摘要： 目的探讨唐山市新生儿携带的常见耳聋基因突变热点及其对听力的影响,为耳聋基因咨询及听力障碍的干预提供依据。方法回顾性分析在唐山市妇幼保健院分娩并行听力与耳聋基因联合筛查的新生儿共5 298例,听力筛查包括耳声发射和自动听性脑干反应;采用博奥晶典生物芯片检测4个常见耳聋突变基因的15个位点,包括GJB2基因(c.35delG, c.176_191del16,c.235delC,c.299_300delA.c.109G>A)、GJB3基因(c.538 C>T)、SLC26A4基因(IVS7-2A>G, c.2168A>G, c.1975 G>C,c.2027 T>A,c.1226G>A,IVS15+5 G>A,c.1174A>T,c.1229C>T)、12srRNA基因(m.1555A>G)。结果耳聋基因突变携带率4.41(234/5 298),为携带耳聋基因突变组;未携带耳聋基因突变的样本中随机选择2 404例,为非携带耳聋基因突变组(对照组)。携带耳聋基因突变组中GJB2、SLC26A4、GJB3、mtDNA12SrRNA、双基因杂合突变及单基因杂合突变携带率分别为2.49%(132/5 298)、1.34%(71/5 298)、0.28%(15/5 298)、0.19%(10/5 298)、0.09%(5/5 298)及0.02%(1/5 298)。携带耳聋基因突变组听力初筛234例,通过率91.88%(215/234),未通过率8.12%(19/234),复筛153例,确诊率1.96%(3/153)。非携带组入组2 404例,初筛通过率93.97%(2 259/2 404),未通过率6.03%(145/2 404),复筛105例,确诊率0.08%(2/2 364)。两组通过率、双耳未通过率及确诊率差异有统计学意义(P=0.001,P<0.001,P<0.001), 结论唐山市新生儿携带常见耳聋基因突变有一定的地域性,携带耳聋基因是听力障碍的高危因素,听力与耳聋基因联合筛查有利于听力障碍的检出。

关键词: 听力与耳聋基因联合筛查, GJB2, SLC26A4, mtDNA12SrRNA, GJB3

Abstract: Objective To explore the hotspots of deafness gene mutation and its effect on hearing in newborns in Tangshan city. Methods The data of 5 298 newborns born in Tangshan maternal and child health care hospital were analyzed retrospectively and hearing and deafness genes were screened. Hearing was screened by otoacoustic emission and auditory brainstem response, and the genetic basis of newborn deafness covering 15 variants in 4 genes was screened by the gene chip. Genes included GJB2(c.35delG, c.176_191del16, c.235delC, c.299_300delA.c.109G>A), GJB3(c.GJB3538 C>T), SLC26A4(IVS7-2A>G, c.2168A>G, c.1975 G>C, c.2027 T>A,c.1226G>A, IVS15+5 G>A, c.1174A>T, c.1229C>T), and 12srRNA(m.1555A>G). Results In total, 234 patients with deafness genes were identified as the deafness gene carrier group. A total of 2 404 patients were randomly selected from 5064 without deafness genes as the non-deafness gene carrier group to analyze the mutation hotspots of the deafness genes and their effects on hearing status. The prevalence of deafness genes was 4.41%(234/5 298). The positive rates of GJB2, SLC26A4, GJB3, mtDNA12SrRNA, double gene mutation, and single gene mutation were 2.49%(132/5 298), 1.34%(71/5 298), 0.28%(15/5 298), 0.19%(10/5 298), 0.09%(5/5 298), and 0.02%(1/5 298), which differed from previous reports. In primary hearing screening, the for deafness gene carrying group had a pass rate of 91.88%(215/234), a failure rate of 8.12%(19/234), and a diagnosis rate of 1.96%(3/153). In the non-carrier group, the pass rate 93.97%(2 259/2 404), the failure rate was 6.03%(145/2 404), and the diagnosis rate was 0.08%(2/2 364). The pass rate for bilateral ear, failure rate for bilateral ear, and diagnosis rate were different(P=0.001, P<0.001, P<0.001, respectively). Conclusion The common gene mutation for deafness in newborns in Tangshan City has a certain regional character, and carrying deafness genes is a high-risk factor of hearing impairment. The combined screening of hearing and hearing loss genes is beneficial for detecting hearing impairment.

Key words: Joint screening of hearing and deafness genes, GJB2, SLC26A4, mtDNA12SrRNA, GJB3

中图分类号:

R764.43

李为,赵毅,葛玥铭,付洪涛,王进东,张晓龙,董洁,程钰翔. 新生儿常见耳聋基因突变热点及对听力的影响[J]. 山东大学耳鼻喉眼学报, 2024, 38(1): 1-8.

LI Wei, ZHAO Yi, GE Yueming, FU Hongtao, WANG Jindong, ZHANG Xiaolong, DONG Jie, CHENG Yuxiang. Hotspots of deafness gene mutation and its effect on hearing in newborns[J]. Journal of Otolaryngology and Ophthalmology of Shandong University, 2024, 38(1): 1-8.

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