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.
目的探索H BV作为基因治疗载体的可能性及检验HBV点突变表达显性阴性突变体抗hbv的作用。
Objective to explore the possibility of using HBV as a gene delivery vector, and to test the anti-HBV effects by intracellular expression of dominant negative mutants of core protein.
此外，激发标签技术得到的突变体通常为显性遗传，其突变的性状可在转基因的T1代表现出来，为目标突变体的筛选带来了很大的便利。
Moreover, activation tagging mutants usually are dominant, so their phenotypes can be observed in the T1 generation, which is very helpful to screen the mutants on purpose.
本研究同时还发现了GJB2基因突变所致的三个显性遗传家系，最后对一种突变命名进行了校正，进一步丰富了GJB2基因突变相关内容。
This study also found the dominant GJB2 gene mutations in three families. Finally, corrected the name of a mutation, further enriched the content of GJB2 gene mutations.
本研究同时还发现了GJB2基因突变所致的三个显性遗传家系，最后对一种突变命名进行了校正，进一步丰富了GJB2基因突变相关内容。
This study also found the dominant GJB2 gene mutations in three families. Finally, corrected the name of a mutation, further enriched the content of GJB2 gene mutations.
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