简介:目的检测肝豆状核变性(Wilsondisease,WD)ATP7B基因启动子区的DNA序列,分析其结构,发现存在的突变,通过报告基因瞬时表达研究突变对启动子功能的影响.方法检测36个WD家系71名成员(其中48例WD患者)及20名正常人的基因组DNA序列并进行分析.对发现的突变,进行荧光素酶报告基因瞬时表达研究.结果(1)在正常对照、患者一级亲属和WD患者的启动子区-190、-78和+260位(转录起始点为+1)均发现存在单个碱基的不同;(2)在48例病人中发现3例存在-183位C→T突变,其中2例为纯合突变,另1例为杂合突变,在正常对照、患者一级亲属中未发现此改变;(3)通过荧光素酶报告基因瞬时表达研究,发现-183位C→T突变不影响ATP7B基因启动子的功能.结论本研究在ATP7B基因启动子区未发现存在致病突变,提示ATP7B基因启动子区存在致病突变在中国人群中是不常见的.
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简介:InthispaperwestudythesolutionsandstabilityofthegeneralizedWilson’sfunctionalequation∫_Gf(xty)dμ(t)+∫_Gf(xtσ(y))dμ(t)=2f(x)g(y),x,y∈G,whereGisalocallycompactgroup,σisacontinuousinvolutionofGandμisanidempotentcomplexmeasurewithcompactsupportandwhichisσ-invariant.Weshowthat∫_Gg(xty)dμ(t)+∫_Gg(xtσ(y))dμ(t)=2g(x)g(y)iff≠0and∫_Gf(t.)dμ(t)≠0,where[∫_Gf(t.)dμ(t)](x)=∫_Gf(tx)dμ(t).WealsostudysomestabilitytheoremsofthatequationandweestablishthestabilityonnoncommutativegroupsoftheclassicalWilson’sfunctionalequationf(xy)+χ(y)f(xσ(y))=2f(x)g(y)x,y∈G,whereχisaunitarycharacterofG.
简介:Inthispaper,thesupercouvergenceofaclassofWilson-likeelementsisconsidered,andasuperconvergentestimateofWilson-likeelementsisobtainedforstrongregularmeshes.
简介:Inthisarticle,westudytheexplicitexpressionsoftheconstantsintheerrorestimateofthenonconformingfiniteelementmethod.WeexplicitlyobtaintheapproximationerrorestimateandtheconsistencyerrorestimatefortheWilson'selementwithouttheregularassumption,respectively,whichimpliesthefinalfiniteelementerrorestimate.Suchexplicitapriorierrorestimatescanbeusedascomputableerrorbounds.
简介:ThenonconformingWilson’sbrickclassicallyisrestrictedtoregularhexahedralmeshes.LesaintandZlamal[6]relaxedthisconstraintforthetwo-dimensionalanalonueofthiselementInthispaperweextendtheirresultstothreedimensionsandprovethatandwhereuistheexactsolution,u_histheapproximatesolutionandistheusualnormfortheSobolevspaceH~1(?).
简介:目的构建Wilson病基因ATP7B的重组腺病毒载体.方法分别以BamHⅠ+SalⅠ双酶切pcDNA3.0/ATP7B和pDC315,将ATP7BcDNA目的基因片段和线性化的pDC315连接,定向克隆构建pDC315/ATP7B,以PCR和酶切的方法鉴定.pDC315/ATP7B与腺病毒骨架共转染293细胞构建Ad-ATP7B,PCR进行鉴定.结果经PCR和酶切鉴定证实pDC315/ATP7B构建成功.pDC315/ATP7B与腺病毒骨架共转染293细胞后见明显的毒斑,说明二者在293细胞中同源重组并包装成功.经PCR证实重组腺病毒Ad-ATP7B构建已完成.结论本实验成功构建了ATP7B外源目的基因序列完全正确的重组腺病毒载体Ad-ATP7B,为下一步采用ATP7B基因重组腺病毒载体对Wilson病进行基因治疗打下了基础.