山东医药
山東醫藥
산동의약
Shandong Medical Journal
2015年
43期
17-19
,共3页
杜娟%许涓涓%黄萍丽%付华钰
杜娟%許涓涓%黃萍麗%付華鈺
두연%허연연%황평려%부화옥
耳聋%先天性疾病%耳聋基因%基因突变%基因筛查%新生儿
耳聾%先天性疾病%耳聾基因%基因突變%基因篩查%新生兒
이롱%선천성질병%이롱기인%기인돌변%기인사사%신생인
deafness%congenital diseases%deafness genes%gene mutation%genetic screening%newborn
目的：了解南宁市新生儿突变耳聋基因携带情况。方法选择在广西壮族自治区妇幼保健院出生3~5 d的新生儿4679例,采集其足跟末稍静脉血,提取 DNA,采用基质辅助激光解吸电离飞行时间质谱技术检测GJB2、GJB3、SLC26A4、12SrRNA四个耳聋基因的20个突变位点。结果4679例新生儿中有143例检出四个耳聋基因的13种突变类型,突变耳聋基因携带率为3.056%。 GJB2基因检出235delC、299_300delAT、176_191del16三种突变共76例,GJB3基因检出538C >T、547G >A 两种突变5例,SLC26A4基因检出 IVS7-2A >G、1174A >T、1229C>T、1975G>C、2027T>A、2168A>G、六种突变48例,12SrRNA基因检出1555A>G突变14例。结论通过突变耳聋基因筛查可早期发现迟发性耳聋患儿,为人群听力障碍防控提供帮助。
目的：瞭解南寧市新生兒突變耳聾基因攜帶情況。方法選擇在廣西壯族自治區婦幼保健院齣生3~5 d的新生兒4679例,採集其足跟末稍靜脈血,提取 DNA,採用基質輔助激光解吸電離飛行時間質譜技術檢測GJB2、GJB3、SLC26A4、12SrRNA四箇耳聾基因的20箇突變位點。結果4679例新生兒中有143例檢齣四箇耳聾基因的13種突變類型,突變耳聾基因攜帶率為3.056%。 GJB2基因檢齣235delC、299_300delAT、176_191del16三種突變共76例,GJB3基因檢齣538C >T、547G >A 兩種突變5例,SLC26A4基因檢齣 IVS7-2A >G、1174A >T、1229C>T、1975G>C、2027T>A、2168A>G、六種突變48例,12SrRNA基因檢齣1555A>G突變14例。結論通過突變耳聾基因篩查可早期髮現遲髮性耳聾患兒,為人群聽力障礙防控提供幫助。
목적：료해남저시신생인돌변이롱기인휴대정황。방법선택재엄서장족자치구부유보건원출생3~5 d적신생인4679례,채집기족근말초정맥혈,제취 DNA,채용기질보조격광해흡전리비행시간질보기술검측GJB2、GJB3、SLC26A4、12SrRNA사개이롱기인적20개돌변위점。결과4679례신생인중유143례검출사개이롱기인적13충돌변류형,돌변이롱기인휴대솔위3.056%。 GJB2기인검출235delC、299_300delAT、176_191del16삼충돌변공76례,GJB3기인검출538C >T、547G >A 량충돌변5례,SLC26A4기인검출 IVS7-2A >G、1174A >T、1229C>T、1975G>C、2027T>A、2168A>G、륙충돌변48례,12SrRNA기인검출1555A>G돌변14례。결론통과돌변이롱기인사사가조기발현지발성이롱환인,위인군은력장애방공제공방조。
Objective To understand the newborns ' carrying situation of the mutation of deafness-related genes in Nanning. Methods Samples of heel blood were collected from 4 679 newborns in Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region who were born in 3-5 days. DNA samples were extracted and detected by Matrix-assis-ted Laser Desorption-Ionization Time of Flight Mass Spectrometry ( MALDI-TOF-MS ) , including 20 mutation sites of 4 deafness-related genes ( GJB2, GJB3, SLC26A4 and 12SrRNA). Results Among 4 679 newborns, 143 cases (3. 056%) were detected with 13 mutation types, which included 76 cases of GJB2 (235delC, 299_300delAT, 176_191del16) gene mutation, 5 cases of GJB3 (538C>T, 547G>A) gene mutation, 48 cases of SLC26A4 ( IVS7-2A>G, 1174A>T, 1229C>T, 1975G>C, 2027T>A, 2168A>G) gene mutation and 14 cases of 12SrRNA (1555A>G) gene mutation. Conclusion The mutation of deafness-related gene screening in neonates may be useful in early detection of de-layed deafness and it helps for the prevention and control of hearing impairment.
