...学位论文全文数据库 色荧光蛋白（green fluorescence protein,GFP）腺病毒载体、构建TRPC6显性突变基因（dominant negtive TRPC6,DNC6）腺病毒载体、构建TRPC6野生型（wild type,WTC6）腺病毒载体;②腺病毒载体转染Eca1..
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...论文全文数据库 色荧光蛋白（green fluorescence protein,GFP）腺病毒载体、构建TRPC6显性突变基因（dominant negtive TRPC6,DNC6）腺病毒载体、构建TRPC6野生型（wild type,WTC6）腺病毒载体;②腺病毒载体转染Eca1...
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显性基因突变 dominant gene mutation
由于Schinzel - Giedion早已被认为是由新生显性突变引起的，因此缩小候选基因的列表就与隐性遗传疾病略有不同。
Because Schinzel-Giedion was already thought to be caused by a DE novo, dominant mutation, narrowing down the list of candidate genes was slightly different than for inherited, recessive disorders.
方法：筛选出患长qt综合征1型的家庭成员，并鉴定KCNQ1基因中一个常染色体显性遗传突变基因(R190 Q)。
Methods We screened a family affected by long-QT syndrome type 1 and identified an autosomal dominant missense mutation (R190Q) in the KCNQ1 gene.
该研究小组说，基因疗法还可能用于治疗GUCY2D的突变引起的锥杆营养不良（线）的隐性和显性的形式。
The research team says that the gene therapy might also be used in treating recessive and dominant forms of cone-rod dystrophy (CORD) caused by mutations in GUCY2D.
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