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目的了解赣南地区新生儿耳聋易感基因的携带和突变情况,探讨听力和耳聋易感基因联合筛查的临床意义。方法选取赣南地区出生听力复筛未通过新生儿200例(目标人群),42 d~3月龄时进行问卷调查,采集足跟血或外周血提取DNA,对4个常见基因线粒体12SrRNA、核基因GJB2、GJB3和SLC26A4中9个突变位点进行检测,3月龄进行声导抗(AIM)、畸变产物耳声发射(DPOAE)、听性脑干诱发电位反应(ABR)及多频稳态诱发电位反应(ASSR)等诊断性听力学检查,分析听力和基因筛查结果。结果 200例新生儿中共检出携带耳聋基因突变41例,其中GJB2基因突变27例,包括235delC杂合突变17例,235delC纯合突变4例,235delC/299del AT复合杂合突变3例,235delC/176del16复合杂合突变2例,299del AT杂合突变1例;GJB3基因(538C>T)杂合突变1例;SLC26A4(PDS)基因突变11例,其中(IVS7-2A>G)杂合突变7例,2168A>G杂合突变4例;线粒体DNA12SrRNA基因突变2例,其中1555A>G和1494C>T同质突变各1例。15例有耳聋家族史新生儿中检出耳聋基因突变7例,185例无耳聋家族史新生儿中检出耳聋基因突变34例,有耳聋家族史新生儿耳聋基因突变率明显高于无耳聋家族史新生儿,差异有统计学意义(P<0.01)。结论听力筛查未通过并伴有耳聋家族史新生儿可作为耳聋易感基因筛查的重点对象,听力和基因联合筛查可以弥补单纯听力筛查的不足,有助于遗传性耳聋的早诊断、早治疗、早干预,对遗传咨询、婚育指导具有重要意义。
Objective To understand the prevalence and mutation of neonatal deafness susceptibility genes in southern Jiangxi and to explore the clinical significance of combined screening of hearing and deafness susceptibility genes. Methods A total of 200 newborns (target population) who did not pass newborn hearing screening in southern Jiangxi were enrolled in this study. Questionnaire surveys were conducted at 42 d to 3 months of age. DNA from heel blood or peripheral blood was collected and the mitochondrial 12SrRNA, Nine mutations were detected in GJB2, GJB3 and SLC26A4 genes. AIM, DPOAE, ABR and multi-frequency steady state Evoked potentials (ASSR) and other diagnostic hearing tests, hearing and genetic screening results. Results There were 41 cases of deafness gene mutations detected in 200 neonates. Among them, 27 cases were GJB2 gene mutation, 17 cases were 235delC heterozygous mutation, 4 cases were 235delC homozygous mutation, 3 cases were 235delC / 299del AT complex heterozygous mutation, 235delC / 176del16 compound heterozygous mutation, 299del AT heterozygous mutation in 1 case, GJB3 gene (538C> T) heterozygous mutation in 1 case, SLC26A4 (PDS) gene mutation in 11 cases, in which IVS7-2A> G heterozygous mutation Cases, 2168A> G heterozygous mutation in 4 cases; mitochondrial DNA12SrRNA gene mutation in 2 cases, 1555A> G and 1494C> T homozygous mutation in 1 case. Among 15 neonates with deafness family history, 7 cases of deafness gene mutation were detected, and 185 cases of deafness gene mutation were detected in newborns without family history of deafness. The mutation rate of deafness gene family members with deafness family history was significantly higher than that without deafness family History of newborns, the difference was statistically significant (P <0.01). Conclusion Hearing screening and newborn with deafness family history can be used as the key target of deafness susceptibility gene screening. Hearing and gene screening can make up for the deficiencies of simple hearing screening and contribute to the early diagnosis of hereditary deafness Early treatment, early intervention, genetic counseling, marriage and childbearing guidance is of great significance.