Curran M E, Atkinson D L, Ewart A K, Morris C A, Leppert M F, Keating M T
Department of Human Genetics, University of Utah, Salt Lake City 84112.
Cell. 1993 Apr 9;73(1):159-68. doi: 10.1016/0092-8674(93)90168-p.
To identify genes involved in vascular disease, we investigated patients with supravalvular aortic stenosis (SVAS), an inherited vascular disorder that causes hemodynamically significant narrowing of large elastic arteries. Pulsed-field gel and Southern analyses showed that a translocation near the elastin gene cosegregated with SVAS in one family. DNA sequence analyses demonstrated that the translocation disrupted the elastin gene and localized the breakpoint to exon 28. Taken together with our previous study linking SVAS to the elastin gene in two additional families and existing knowledge of vascular biology, these data suggest that mutations in the elastin gene can cause SVAS.
为了鉴定与血管疾病相关的基因，我们研究了患有主动脉瓣上狭窄（SVAS）的患者，这是一种遗传性血管疾病，会导致大弹性动脉出现具有血流动力学意义的狭窄。脉冲场凝胶电泳和Southern分析表明，在一个家族中，弹性蛋白基因附近的易位与SVAS共分离。DNA序列分析表明，该易位破坏了弹性蛋白基因，并将断点定位到第28外显子。结合我们之前在另外两个家族中将SVAS与弹性蛋白基因联系起来的研究以及现有的血管生物学知识，这些数据表明弹性蛋白基因的突变可导致SVAS。
