摘要
目的筛查重庆市永川地区非综合征型青少年耳聋患者中我国耳聋基因热点突变,初步了解该地区耳聋基因热点突变谱系及发生频率。方法收集重庆市永川区特殊教育学校的永川籍非综合征型青少年耳聋患者60例,经监护人知情同意,抽取外周静脉全血并提取基因组DNA,应用晶芯R九项遗传性耳聋检测试剂盒(微阵列芯片)检测中国人群中常见的4个耳聋基因的9个突变位点,包括GJB2(235delC、176del16、299delAT和35delG)、SLC26A4(IVS7-2A>G、2168A>G)、线粒体12SrRNA(1494C>T、1555A>G)、GJB3(538C>T)。结果 60例受检者全部为重度或极重度非综合征型耳聋,共检出耳聋基因突变22例,其中GJB2235delC纯合突变型2例;GJB2235delC/176del16复合杂合突变型1例;GJB2235delC/299delAT复合杂合突变型1例;GJB2235delC杂合突变型8例;GJB2299delAT纯合突变型1例;GJB235delG/SLC26A4IVS7-2A>G复合杂合突变型1例;SLC26A4IVS7-2A>G杂合突变型2例;线粒体12SrRNA1555A>G均质型突变型6例。60例受检者中47号与55号为亲兄妹,后续统计仅纳入先证者,所以只将47号纳入统计,样本总量计为59例。59例耳聋患者中我国耳聋基因热点突变的携带率是37.29%(22/59),其中GJB2基因突变是该人群首要的致病因素,携带率为23.73%(14/59),线粒体12SrRNA基因突变检出率为10.17%(6/59),高于SLC26A4基因的5.08%(3/59),未检出GJB3基因突变。结论重庆市永川地区非综合征型青少年耳聋患者耳聋基因突变携带率较高,对该地区耳聋患者及高危人群进行耳聋基因突变的筛查是防控永川地区遗传性耳聋的首要步骤,在此基因诊断的基础上再结合用药指导、产前诊断、临床干预可有效减少该地区耳聋的发生。
Objective To investigate the spectrum and incidence of the hot-spot deafness gene mutations in non-syndromic hearing loss adolescents in Yong Chuan, Chong Qing. Methods Peripheral blood samples were obtained from 60 adolescents with severe to profound non-syndromic deafness at Yong Chuan Special Educational School. The hot-spot deafness gene mutations, including GJB2, GJB3, SLC26A4, mitochondrial DNA 12S rRNA genes, were detected using a nine deafness gene mutations detection kit （Microarray）. Results from 59 adolescents were analyzed as 2 of the subjects were siblings （brother and sister）. Results Among the 59 analyzed adolescents, 22 demonstrated deafness genes. GJB2 mutations were seen in 14 subjects, including 235 del C homozygosis （n=2） and heterozygosis mutations （n=8）;GJB2 235 del C/176 del 16 compound mutation （n=1）;GJB2 235 del C/299 del AT compound mutation （n=1）;GJB2 299 del AT homozygosis mutation （n=1） and GJB2 35 del G/SLC26A4 IVS 7-2 A〉G compound mutation （n=1）. Other mutations included SLC26A4 IVS7-2A〉G heterozygosis mutations （n=2） and mitochondrial 12SrRNA heterozygosis mutations （n=6）. No GJB3 gene mutation was found. The deafness gene mutation rate in this group of deaf adolescents in Yong Chuan was 37.29%（22/59）, with the GJB2 mutations being the most common （23.73%, 14/59） followed by the mitochondrial DNA 12SrRNA mutations （10.17%, 6/59）. Conclusion Molecular genetic screening for these hot-spot mutations is the pivotal step for the pre vention and control of hereditary deafness in Yong Chuan.
出处
《中华耳科学杂志》
CSCD
北大核心
2013年第1期126-130,共5页
Chinese Journal of Otology
基金
重庆市教委科学技术研究项目(KJ110326)
重庆医科大学附属永川医院院内课题(YJYB201025)
关键词
遗传性耳聋
非综合征型耳聋
热点突变
基因诊断
基因芯片
Hereditary hearing loss
Non-syndromic hearingloss
Hot-spot mutation
Genetic diagnosis
Gene chip
