CAJ | 학술논문

目的通过对柳州地区161例先天性聋患者常见耳聋易感基因突变的检测,探讨该地区先天性聋患者耳聋易感基因突变的检出情况.方法收集新生儿听力筛查未通过和门诊散发的经听力学诊断确诊为先天性聋的患者161例,采集静脉血样,提取DNA,经PCR扩增,采用限制酶切和直接测序技术对GJB2、线粒体DNA12SrRNA A1555G和SLC26A4(PDS)三种耳聋易感基因突变热点进行检测.结果 161例患者中1例(0.62%)为线粒体DNA1555G突变,2例(1.24%)为GJB2 235delC纯合突变,1例为235delC杂合突变,1例为299～300delAT杂合突变,GJB2总体突变携带率为2.48%;SLC26A4基因IVS7-2 A>G杂合突变10例(6.21%).总体分子水平上能明确诊断或提示遗传性聋者占9.31%.结论柳州市本组先天性耳聋患者中,三种常见耳聋易感基因突变频率较低,未知的遗传或环境因素在该地区耳聋的发病中可能起重要的作用.
목적 통과대류주지구161례선천성롱환자상견이롱역감기인돌변적검측,탐토해지구선천성롱환자이롱역감기인돌변적검출정황.방법 수집신생인은력사사미통과화문진산발적경은역학진단학진위선천성롱적환자161례,채집정맥혈양,제취DNA,경PCR확증,채용한제매절화직접측서기술대GJB2、선립체DNA12SrRNA A1555G화SLC26A4(PDS)삼충이롱역감기인돌변열점진행검측.결과 161례환자중1례(0.62%)위선립체DNA1555G돌변,2례(1.24%)위GJB2 235delC순합돌변,1례위235delC잡합돌변,1례위299～300delAT잡합돌변,GJB2총체돌변휴대솔위2.48%;SLC26A4기인IVS7-2 A>G잡합돌변10례(6.21%).총체분자수평상능명학진단혹제시유전성롱자점9.31%.결론 류주시본조선천성이롱환자중,삼충상견이롱역감기인돌변빈솔교저,미지적유전혹배경인소재해지구이롱적발병중가능기중요적작용.
Objective To investigate the epidemiological characteristics of three common susceptive gene retared hearing loss in the patients with the congenital deafness in Liuzhou.Methods 161 patients with congenital hearing loss were diagnosed with audiologic evolutions,including newborns and outpatients.The blood samples of all patients were taken for the extraction of DNA which was amplified by PCR.The common mutationsl hot spots of the mitochondrial DNA 12SrRNA,GJB2 and SLC26A4 were examined by restricted enzyme and directed sequencing.Results 1 case(0.62%)was found to carry mitoehondrial DNA 12SrRNA A1555G and 4 patients(2.48%)carried heterozygotes or homozygotes pathologic mutations of GJB2.10 patients(6.21%)were heterozygous carriers with pathologic mutations,IVS7-2 A>G,in the SLC26A4 gene.The detection rate of GJB2,mitochondrial DNA A1555G and SLC26A4 mutations in 161 patients were 9.31%.Conclusion The patients with congenital hearing loss distributed different minority groups in liuzhou zone.The mutational frequencies of the three common gene related hearing loss in the patients of Liuzhou were noticeably lower than the data reported in other regions in China.The gene screening for deafness was very important for early diagnosis and treatment.