中华医学遗传学杂志
中華醫學遺傳學雜誌
중화의학유전학잡지
CHINESE JOURNAL OF MEDICAL GENETICS
2012年
4期
388-392
,共5页
王玮%程洪波%杨念%史轶超%刘金枝%李钦%杨慎敏%沈丽燕%刘敏娟%陈瑛%李红
王瑋%程洪波%楊唸%史軼超%劉金枝%李欽%楊慎敏%瀋麗燕%劉敏娟%陳瑛%李紅
왕위%정홍파%양념%사질초%류금지%리흠%양신민%침려연%류민연%진영%리홍
非综合征型耳聋%GJB2基因%线粒体DNA%12S rRNA 1555A＞G
非綜閤徵型耳聾%GJB2基因%線粒體DNA%12S rRNA 1555A＞G
비종합정형이롱%GJB2기인%선립체DNA%12S rRNA 1555A＞G
Non-syndromic hearing loss%GJB2 gene%Mitochondrial DNA%12S rRNA 1555A＞G
目的 对非综合征型耳聋患者家系进行最常见致病GJB2基因和线粒体DNA 12S rRNA基因1555A＞G突变分析,寻找非综合征型耳聋家系致聋的遗传学病因.方法 对16个耳聋家系进行病因问卷调查、纯音测听检查,用测序法对17例非综合征型感音神经性耳聋患者及其父母进行GJB2基因和线粒体DNA 12S rRNA 1555A＞G突变的检测.结果 在17例感音神经性耳聋患者中,检出GJB2 235 delC纯合突变3例,235 delC杂合突变1例,235 delC+299_300 delAT双杂合突变1例,79G＞A+341G＞A双杂合突变6例.未发现线粒体DNA 12S rRNA 1555A＞G位点突变.结论 江苏地区线粒体DNA 12SrRNA 1555A＞G位点突变的发生率可能比较低.GJB2基因235 delC突变、299_300 delAT、79G＞A+341G＞A双杂合突变检出率为64.7％(11/17),因此对GJB2基因突变的筛查可以明确或提示部分非综合征型耳聋的病因.
目的 對非綜閤徵型耳聾患者傢繫進行最常見緻病GJB2基因和線粒體DNA 12S rRNA基因1555A＞G突變分析,尋找非綜閤徵型耳聾傢繫緻聾的遺傳學病因.方法 對16箇耳聾傢繫進行病因問捲調查、純音測聽檢查,用測序法對17例非綜閤徵型感音神經性耳聾患者及其父母進行GJB2基因和線粒體DNA 12S rRNA 1555A＞G突變的檢測.結果 在17例感音神經性耳聾患者中,檢齣GJB2 235 delC純閤突變3例,235 delC雜閤突變1例,235 delC+299_300 delAT雙雜閤突變1例,79G＞A+341G＞A雙雜閤突變6例.未髮現線粒體DNA 12S rRNA 1555A＞G位點突變.結論 江囌地區線粒體DNA 12SrRNA 1555A＞G位點突變的髮生率可能比較低.GJB2基因235 delC突變、299_300 delAT、79G＞A+341G＞A雙雜閤突變檢齣率為64.7％(11/17),因此對GJB2基因突變的篩查可以明確或提示部分非綜閤徵型耳聾的病因.
목적 대비종합정형이롱환자가계진행최상견치병GJB2기인화선립체DNA 12S rRNA기인1555A＞G돌변분석,심조비종합정형이롱가계치롱적유전학병인.방법 대16개이롱가계진행병인문권조사、순음측은검사,용측서법대17례비종합정형감음신경성이롱환자급기부모진행GJB2기인화선립체DNA 12S rRNA 1555A＞G돌변적검측.결과 재17례감음신경성이롱환자중,검출GJB2 235 delC순합돌변3례,235 delC잡합돌변1례,235 delC+299_300 delAT쌍잡합돌변1례,79G＞A+341G＞A쌍잡합돌변6례.미발현선립체DNA 12S rRNA 1555A＞G위점돌변.결론 강소지구선립체DNA 12SrRNA 1555A＞G위점돌변적발생솔가능비교저.GJB2기인235 delC돌변、299_300 delAT、79G＞A+341G＞A쌍잡합돌변검출솔위64.7％(11/17),인차대GJB2기인돌변적사사가이명학혹제시부분비종합정형이롱적병인.
Objective To screen for genetic mutations in families featuring non-syndromic hearing loss.Methods Sixteen families with non-syndromic hearing loss were interviewed to identify medical histories by a questionnaire.Audiological and neurological examinations were conducted for all families.Coding regions of GJB2 and 12S rRNA genes were amplified and sequenced.Results Of the 17 patients with sensorineural hearing loss,3 were homozygous mutation for GJB2 235 delC, 1 was 235 delC heterozygous mutation,1 was 235 delC+299_300 delAT compound heterozygous mutation,and 6 were 79 G＞A+341G＞A heterozygosis in cis mutation.No 1555A＞G mutation of mitochondrial DNA (mtDNA) was found in the 16 families.Conclusion The incidence of mtDNA 12S rRNA 1555A＞G mutation in Jiangsu province may be lower than the average across China.Mutations of GJB2 genes may account for as much as 64.7％ of non-syndromic hearing loss in this study. Screening for such mutations and genetic counseling may play an important role in the prevention of hereditary hearing loss.
