期刊文献+

非综合征性耳聋的基因突变分析和产前诊断 被引量:6

Genetic analysis and prenatal diagnosis for non-syndromic hearing impairment
原文传递
导出
摘要 目的探讨非综合征性耳聋的分子病机制,并在此基础上建立遗传性耳聋产前基因诊断方法。方法应用耳聋基因芯片和GJB2全编码序列分析对66个非综合征性耳聋家系的GJB2基因、SLC26A4基因和线粒体基因进行突变检测,并为7例高危孕妇提供产前基因诊断。结果在66例非综合征性耳聋患者中,两种方法共检测到GJB2基因突变携带者14例(21.21%,1例芯片未检测到),包括235delC纯合突变3例、176dell6纯合突变2例、235delc/299delAT复合杂合突变2例、299delAT/176del16复合杂合突变1例、c.339T〉G/313del12bp复合杂合突变1例、235delC杂合突变5例。发现SLC26A4基因突变携带者13例(19.70%),包括2168A〉G纯合突变2例、IVS7—2A〉G纯合突变2例、2168A〉G/IVS7—2A〉G复合杂合突变3例、2168A〉G杂合突变3例、IVs7—2A〉G杂合突变3例。mtDNAl2SrRNA基因突变3例(4.54%),包括1555A〉G均质突变2例、1494C〉T均质突变1例。7例高危胎儿中,3例分别为235delC、35insG和2168A〉G杂合突变携带者,2例未见突变,随访听力正常;1例为235delC/299delAT复合杂合突变,1例为235delC纯合突变。结论基因芯片结合GJB2序列分析是诊断非综合征性耳聋的一种准确和高效的方法。产前诊断可为遗传性耳聋家庭提供准确的遗传咨询。 Objective To detect genetic mutations underlying non-syndromic hearing impairment (NSHI) and establish a method for prenatal diagnosis. Methods Sixty-six NSHI patients were included in this study. DNA was extracted from peripheral blood. Gene mutations were analyzed by gene chip analysis and direct sequencing of GJB2 gene. For 7 pregnant women at high risk, prenatal gene diagnosis was provided. Results Fourteen cases (21. 21%) were found to have GJB2 mutations by the two methods (homozygous 235delC mutation in 3 cases, homozygous 176de116 mutation in 2 cases, 235delC and 299delAT compound heterozygous mutation in 2 cases, 299delAT and 176de116 compound heterozygous mutation in 1 cases, c. 339T〉G and 313del 12 bp compound heterozygous mutation 1 cases, and 235de1C heterozygous mutation in 5 cases) ; 13 cases (19.70 %) had SLC26A4 mutation (IVS7-2 A〉G homozygous mutation in 2 cases, IVS7-2 A〉G homozygous mutation in 2 cases, IVS7-2 A〉G and 2168A〉G compound heterozygous mutation in 3 cases, 2168A〉G heterozygous mutation in 3 cases and IVS7-2 heterozygous mutation in 3 cases); and 3 bad mtDNA12S rRNA mutation (1555A〉G mutation in 2 cases, 1494C〉T mutation in 1 case). Prenatal diagnosis suggested that 3 fetuses have carried a heterozygous mutation. Two fetuses were detected as normal and were confirmed to have normal hearing after birth. Two fetuses were found to have carried compound mutations of GJB2. Conclusion Gene chip combined with GJB2 sequencing analysis is an accurate and effective method for the diagnosis of NSHI. The results can facilitate accurate prenatal diagnosis.
出处 《中华医学遗传学杂志》 CAS CSCD 北大核心 2013年第5期518-521,共4页 Chinese Journal of Medical Genetics
基金 河南省科技攻关项目(2010031114) 河南省医学科技创新人才工程项目(87)
关键词 遗传性耳聋 GJB2基因 SLC26A4基因 突变 产前诊断 Hereditary deafness GJB2 gene SLC26A4 gene Mutation Prenatal diagnosis
  • 相关文献

参考文献4

二级参考文献33

  • 1Zhu Y,Qian YP,Tang XW,Wang JD,Yang L,Liao ZS,Li RH,Ji JZ,Li ZY,Chen JF,Choo DI,Lu JX,Guan MX.Aminoglycoside-induced and non-syndromic hearing loss is associated with the G7444A mutation in the mitochondrial COI/tRNA (Ser(UCN)) genes in two Chinese families[J].中国生物学文摘,2006,20(4):18-19. 被引量:16
  • 2欧启水,程祖建,陈静,杨滨,江凌,叶胜难.中国人非综合征型耳聋患者线粒体DNAA1555G突变分析[J].中华检验医学杂志,2007,30(3):273-275. 被引量:17
  • 3Kenneson A, Van Naarden Braun K, Boyle C, et al. GJB2 (eonnexin 26) variants and nonsyndromic aensorineural hearing loss: a HuGE review. GenetMed, 2002,4 : 258-274.
  • 4Denoyelle F, Well D, Maw MA, et al. Prelingual deafness: high prevalence of a 30delG mutation in the Connexin 26 gene. Hum Mol Genet, 1997, 6 : 2173-2177.
  • 5Park HJ, Shaukat S, Liu XZ, et al. Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians:global impiications for the epidemiology of deafness. J Med Genet ,2003, 40 : 242-248.
  • 6Everett LA, Glaser B, Beck JC, et al. Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS). NatGenet,1997,17: 411-422.
  • 7Park HJ, Lee SJ, Jin HS, et al. Genetic basis of hearing loss associated with enlarged vestibular aqueducts in Koreans. Clin Genet,2005,67 : 160- 165.
  • 8Wu CC, Yeh TH, Chen PJ, et al. Prevalent SLC26A4 mutations in patients with enlarged vestibular aqueduct and/or Mondini dysplasia: a unique spectrum of mutations in Taiwan, including a frequent founder mutation. Laryngoscope, 2005, 115 : 1060- 1064.
  • 9Yang JJ, Tsai CC, Hsu HM, etal. Hearing loss associated with enlarged vestibular aqueduct and Mondini dysplasia is caused by splice-site mutation in the PDS gene. Hear Res, 2005,199:22- 30.
  • 10Park HJ, Lee SJ, Jin HS, et al. Genetic basis of hearing loss associated with enlarged vestibular aqueducts in Koreans. Clin Geuet,2005, 67 : 160- 165.

共引文献31

同被引文献38

  • 1张锡宝,魏生才,王艳芳,李常兴,徐晓,李季,何玉清,罗权.角膜炎、鱼鳞病、耳聋综合征的GJB2基因突变研究[J].中华皮肤科杂志,2006,39(3):146-148. 被引量:8
  • 2第二次残疾人抽样调查办公室.全国第二次残疾人抽样调查主要数据手册[M].北京:华夏出版社,2007.2-38.
  • 3Olusanya BO. Neonata hearing screening and intervention in resource-limited settings : an overview[J]. Arch Dis Child, 2012, 97(7) :654-659.
  • 4Papacharalampous GX, Nikolopoulos TP, Davilis DI, et al. Universal newborn hearing screening, a revolutionary diagnosis of deafness: real benefits and limitations [J]. Eur Arch Otorhinolaryngol, 2011, 268(10) : 1399-1406.
  • 5Mahboubi H, Dwabe S, Fradkin M, et al. Genetics of hearing loss where are we standing now [J] Eur Arch Otorhinolaryngol, 2012, 269(7):1733-1745.
  • 6Wang QJ, Zhao YI., Rao SQ, et al. Newborn hearing concurrent gene screening can improve care for hearing loss= a study on 14, 913 Chinese newborns [J]. Int J Pediatr Otorhinolaryngol, 2011,75(4) :535 -542.
  • 7Zhang Z, Ding W, Liu X, et al. Auditory screening concurrent deafness predisposing genes screening in 10043 neonates in Gansu province, China [J ]. Int J Pediatr Otorhinolaryngol, 2012, 76(7):984- 988.
  • 8Dai P, Yu F, Han B, et al. GJB2 mutation spectrum in 2,063 Chinese patients with nonsyndromic hearing impairment[J]. J Transl Med, 2009, 7:26.
  • 9Zhang J, Wang P, Han B, et al. Newborn hearing concurrent genetic screening for hearing impairment-a clinical practice in 58, 397 neonates in Tianjin, China [ J]. Int J Pediatr Otorhinolaryngol, 2:013,77 (12) : 1929-1935.
  • 10袁永一,黄德亮,戴朴,朱秀辉,于飞,张昕,刘丽贤,韩东一.赤峰市特教学校耳聋患者GJB2和GJB3及GJB6基因突变分析[J].临床耳鼻咽喉头颈外科杂志,2008,22(1):14-17. 被引量:27

引证文献6

二级引证文献29

相关作者

内容加载中请稍等...

相关机构

内容加载中请稍等...

相关主题

内容加载中请稍等...

浏览历史

内容加载中请稍等...
;
使用帮助 返回顶部