CAJ | 학술논문

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(235 del C、176 del 16、299 del AT和35 del G)、SLC26A4(IVS 7-2 A>G、2168 A>G)、线粒体12S rRNA(1494 C>T、1555 A>G)、GJB3(538 C>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GJB2235 del C纯合突变型2例;GJB2235 del C/176 del 16复合杂合突变型1例;GJB2235 del C/299 del AT复合杂合突变型1例;GJB2235 del C杂合突变型8例;GJB2299 del AT纯合突变型1例;GJB235 del G/SLC26A4 IVS 7-2 A>G复合杂合突变型1例;SLC26A4 IVS 7-2 A>G杂合突变型2例;线粒体12S rRNA 1555 A>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12S rRNA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.
목적사사중경시영천지구비종합정형청소년이롱환자중아국이롱기인열점돌변,초보료해해지구이롱기인열점돌변보계급발생빈솔.방법수집중경시영천구특수교육학교적영천적비종합정형청소년이롱환자60례,경감호인지정동의,추취외주정맥전혈병제취기인조DNA,응용정심R구항유전성이롱검측시제합(미진렬심편)검측중국인군중상견적4개이롱기인적9개돌변위점,포괄GJB2(235 del C、176 del 16、299 del AT화35 del G)、SLC26A4(IVS 7-2 A>G、2168 A>G)、선립체12S rRNA(1494 C>T、1555 A>G)、GJB3(538 C>T).결과60례수검자전부위중도혹겁중도비종합정형이롱,공검출이롱기인돌변22례,기중GJB2235 del C순합돌변형2례;GJB2235 del C/176 del 16복합잡합돌변형1례;GJB2235 del C/299 del AT복합잡합돌변형1례;GJB2235 del C잡합돌변형8례;GJB2299 del AT순합돌변형1례;GJB235 del G/SLC26A4 IVS 7-2 A>G복합잡합돌변형1례;SLC26A4 IVS 7-2 A>G잡합돌변형2례;선립체12S rRNA 1555 A>G균질형돌변형6례.60례수검자중47호여55호위친형매,후속통계부납입선증자,소이지장47호납입통계,양본총량계위59례.59례이롱환자중아국이롱기인열점돌변적휴대솔시37.29%(22/59),기중GJB2기인돌변시해인군수요적치병인소,휴대솔위23.73%(14/59),선립체12S rRNA기인돌변검출솔위10.17%(6/59),고우SLC26A4기인적5.08%(3/59),미검출GJB3기인돌변.결론중경시영천지구비종합정형청소년이롱환자이롱기인돌변휴대솔교고,대해지구이롱환자급고위인군진행이롱기인돌변적사사시방공영천지구유전성이롱적수요보취,재차기인진단적기출상재결합용약지도、산전진단、림상간예가유효감소해지구이롱적발생.
@@@@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 sub?jects 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 homo?zygosis 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 muta?tions (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.