CAJ | 학술논문

目的探讨遗传性耳聋基因检测芯片在中国孕妇人群常见遗传性耳聋基因突变位点检测中的作用,并评估其在遗传性耳聋产前诊断中的应用.方法对3056例孕妇采集外周血并抽提DNA,采用遗传性耳聋基因芯片检测GJB2、SLC26A4、线粒体12S rRNA、GJB3等4个中国人群常见遗传性耳聋基因共9个突变热点.根据检测结果对有耳聋生育风险的夫妇提供遗传咨询与生育指导.结果 3056例孕妇中,共检测到156例携带至少一种基因突变,占总抽查人数的5.11％.其中7例为线粒体12S rRNA突变,预测后代亦为此突变携带者,需终生避免使用氨基糖苷类抗生素.149例为另外三种隐性耳聋基因突变,对其中的124例生育配偶进行了相关基因的全序列测序分析,共有20对夫妇具有遗传性耳聋生育风险.5对夫妇要求进行耳聋产前诊断,4例产前诊断结果均为相应致病基因单杂合突变或野生型,出生后听力随访均未发现异常;Ⅰ例为p.V37I/c.235delC复合杂合突变,有产生轻、中度耳聋的风险.结论利用遗传性耳聋基因芯片进行临床耳聋基因突变产前筛查具有高度可靠性和可操作性,结合产前诊断技术能有效预防先天性耳聋患儿的出生.
목적 탐토유전성이롱기인검측심편재중국잉부인군상견유전성이롱기인돌변위점검측중적작용,병평고기재유전성이롱산전진단중적응용.방법 대3056례잉부채집외주혈병추제DNA,채용유전성이롱기인심편검측GJB2、SLC26A4、선립체12S rRNA、GJB3등4개중국인군상견유전성이롱기인공9개돌변열점.근거검측결과대유이롱생육풍험적부부제공유전자순여생육지도.결과 3056례잉부중,공검측도156례휴대지소일충기인돌변,점총추사인수적5.11％.기중7례위선립체12S rRNA돌변,예측후대역위차돌변휴대자,수종생피면사용안기당감류항생소.149례위령외삼충은성이롱기인돌변,대기중적124례생육배우진행료상관기인적전서렬측서분석,공유20대부부구유유전성이롱생육풍험.5대부부요구진행이롱산전진단,4례산전진단결과균위상응치병기인단잡합돌변혹야생형,출생후은력수방균미발현이상;Ⅰ례위p.V37I/c.235delC복합잡합돌변,유산생경、중도이롱적풍험.결론 이용유전성이롱기인심편진행림상이롱기인돌변산전사사구유고도가고성화가조작성,결합산전진단기술능유효예방선천성이롱환인적출생.
Objective To evaluate a microarray-based mutation screening method for genetic deafness and its application in prenatal diagnosis.Methods Mutation screening of common deafness genes was performed in pregnant women and volunteers spouses.Nine common mutations in four major deafness genes,GJB2,GJB3,SLC26A4 and mitochondrial 12S rRNA,were detected simultaneously by a microarray-based method.Genetic counseling was given based on their testing results.Results 5.11％ of pregnant women carried at least one mutation.Among them,seven carried mutation in the mitochondria 12S rRNA gene and were offered aminoglycoside-induced ototoxicity warning.For other mutation carriers of GJB2 or SLC26A4 genes,additional mutation screening was performed in their husbands by direct sequencing.A total of 20 couples were at risk of giving birth to children with genetic deafness.Of five couples who selected to undergo prenatal diagnostic testing of the fetus,four were diagnosed as wild type or heterozygous for the tested genes and one as p.V37I/c.235delC compound heterozygous for GJB2.Conclusions DNA microarray is a quick,easy and reliable method to screen mutations in genetic deafness genes.Application of this method in prenatal screening and diagnosis might effectively reduce the occurrence of genetic deafness.