期刊文献+

新生儿非综合征型听力损失GJB2基因的突变分析 被引量:7

Mutations of GJB2 gene in infants with non-syndromic hearing impairment
原文传递
导出
摘要 目的探讨新生儿听力筛查确诊的听力损失与GJB2基因突变的关系。方法应用耳声发射及听觉诱发电位等方法确诊先天性双耳重度极重度非综合征型听力损失患儿20例,采用聚合酶链反应和基因测序等技术检测GJB2基因的编码区序列。50名听力正常人群作对照组。结果3例患儿的基因型为235delC/235delC,占15%;1例为235delC/299300delAT;1例为235delC/605ins46,605ins46是首次在中国人群中发现的新突变;1例为235delC等位基因携带者。即在所分析的患儿中,5例与GJB2基因突变有关,占25%。235delC等位基因频率对照组为1%,患儿组为22.5%(P<0.01)。此外,在耳聋患者和正常人群中尚存在V27I,V37I、E114G、T123N等多态性改变。结论GJB2基因突变是引起听力损失发生的重要因素;235delC是GJB2基因的主要致病突变位点,同时存在特殊类型的新突变以及较多形式的多态性。 Objective To explore the relationship between GJB2 gene mutations and severe-to-profound bilateral non-syndromic hearing impairment (NSHI). Methods Peripheral blood was collected from 20 infants with severe-to-profound bilateral NSHI confirmed by otoacoustic emissions (OAE), auditory brainstem responses (ABR) and clinical physical examination, 11 male and 9 female, aged 3 months to 3 years. PCR and sequencing technique were used to analyze the coding region of GJB2 gene. Fifty persons with normal hearing, 25 males and 25 female, aged 20~50, all without family history of hearing impairment, were used as controls. Results Three infants (15%) were identified as 235delC/235delC homozygotes; one infant was identified as 235delC/299-300delAT compound heterozygote; one was identified as 235delC heterozygote; and one as 235delC/605ins46 compound heterozygote with 605ins46 mutation, a novel mutation reported in Chinese for the first time. GJB2 gene mutations were found in 5 NSHI infants (25%). The allelic frequency of 235delC allele was 22.5% in the NSHI infants and 1% in the control group (P<0.01). Besides, multiple polymorphisms such as V27I,V37I,E114G,T123N were found in both the patients and controls. Conclusion GJB2 analysis is an important test for infants with severe-to-profound bilateral NSHI. 235delC is the main pathogenic mutation site in GJB2 gene.
出处 《中华医学杂志》 CAS CSCD 北大核心 2005年第10期689-692,共4页 National Medical Journal of China
关键词 听力损失 基因突变 综合征 患儿 对照组 新生儿 确诊 多态性 基因型 等位基因频率 Neonatal screening Hearing tests Mutation Genes
  • 引文网络
  • 相关文献

参考文献15

  • 1聂迎玖,戚以胜,赵啸天,蔡正华,杨宜林,陶端,赵天卫,于小千.耳声发射技术在围产期听力学中的应用价值[J].耳鼻咽喉(头颈外科),1999,6(4):207-211. 被引量:94
  • 2聂文英,宫露霞,刘玉俊,相丽丽,林倩,戚以胜,聂迎玖.10501例新生儿听力筛查结果[J].中华医学杂志,2003,83(4):274-277. 被引量:86
  • 3Marazita ML, Ploughman LM, Rawlings B, et al. Genetic epidemiological studies of early-onset deafness in the U.S. school-age population. Am J Med Genet,1993, 46:486-491.
  • 4Xiao Z, Xie D. Deafness genes for nonsyndromic hearing loss and current studies in China. Chin Med J (Engl), 2002, 115:1078-1081.
  • 5Norton SJ, Gorga MP, Widen JE, et al. Indentification of neonatal hearing impairment:evalution of transient evoked otoacoutic emission, distortion product otoacoustic emission,and auditory brain stem response test performance. Ear Hear, 2000, 21:508-528.
  • 6Dent KM, Kenneson A, Palumbos JC, et al. Methodology of a multistate study of congenital hearing loss: preliminary data from Utah newborn screening. Am J Med Genet, 2004,125C:28-34.
  • 7Lopponen T, Vaisanen ML, Luotonen M, et al. Connexin 26 mutations and nonsyndromic hearing impairment in northern Finland. Laryngoscope, 2003, 113:1758-1763.
  • 8Kelley PM, Harris DJ, Comer BC, et al. Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss. Am J Hum Genet, 1998, 62:792-799.
  • 9Wilcox SA, Saunders K, Osborn AH, et al. High frequency hearing loss correlated with mutations in the GJB2 gene. Hum Genet, 2000, 106:399-405.
  • 10Bason L, Dudley T, Lewis K, et al. Homozygosity for the V37I connexin 26 mutation in three unrelated children with sensorineural hearing loss. Clin Genet, 2002, 61:459-464.

二级参考文献11

  • 1许正敏 李瑾.畸变产物耳声发射和听性脑干反应联合应用于新生儿听力筛选的敏感性研究[J].听力学及言语疾病杂志,2001,:9-9,9.
  • 2Vohr BR. The Rhode Island Hearing Assessment Program: experience with statewide hearing screening (1993~1996). J Pediatr, 1998, 133:357-377.
  • 3Cox LG, Toro MR. Evolution of a universal infant hearing screening program in an inner city hosptal. Int J Pediatr Otorhinolaryngol, 2001,59:99-104.
  • 4Finitzo T, Albright K, O′Neal J. The newborn with hearing loss: detection in the nursery. Pediatrics, 1998, 102:1452-1460.
  • 5Judith A, Mason, Kenneth R. Herrmann. Universal infant hearing screening by automated auditory brainstem response measurement. Pediatrics, 1998, 101:221-227.
  • 6Joint Committee on Infant Hearing. Year 2000 Position Statement: principles and guideline for early hearing detection and intervention programs. 2000,1:8-9.
  • 7Clemens CJ. The false-positive in universal newborn hearing screening. Pediatrics, 2000, 106:E7.
  • 8Glenn Isaacson. Universal newborn hearing screening in an inner-city, managed care environment. Laryngoscope, 2000,110:881-894.
  • 9Rhodes MC, Margolis RH, Hirsch JE, et al. Hearing screening in the newborn intensive care nursery: comparison of methods. Otolaryngol Head Neck Surg, 1999, 120:799-808.
  • 10聂迎玖,戚以胜,杨宜林,蔡正华,张巍,黄醒华,陈宝瑛.足月新生儿瞬态诱发性耳声发射能量谱分析[J].耳鼻咽喉(头颈外科),1998,5(5):263-268. 被引量:4

共引文献158

同被引文献197

引证文献7

二级引证文献51

;
使用帮助 返回顶部