Study Of Mutations Of Marfan Syndrome Related Gene TGFBR2

In the past few years,there were many reports of marfan syndrome related new genetic mutations in abroad,especially, There were many MFS-related syndromes to be raised after many Studys of genetic mutations in TGFBR2.Thereby,the genetic study of MFS and MFS-related disorders became popular,many institutions had go in for investigating the new mutaions and diagnostic criterias of MFS and MFS-related syndromes.Now,our country had not report of mutations in TGFBR2 yet,still used Ghent diagnostic criterias,so,our institution begin to study the mutations of TGFBR2 in chinese and investigate the new diagnostic criterias for chinese.Part I The reserch of mutations of TGFBR2 in 38 patients with aotric aneurysm and molecular biologic discussObjective:We had gene sceening and DNA sequencing on 38 patients treated with aotric aneurysm and dissction involved to MFS and MFS-related syndromes to find the mutations of TGFBR2 and make molecular biologic discussion.Methods:We extracted the DNA from the peripheral blood in the 38 patients, amplificated with PCR,through agarose Gel Electrophoresis and enzymes dissestion,then made gene sequencing for it to find the mutations of TGFBR2. Results:We found 4 mutations of TGFBR2.One of them was the disease causing gene mutation of Loeys-Dietz syndrome proved by abroad institutions,two of them have been studying and discussing by abroad institutions,one is discoved and reported for first time by our institution.Conclusions:Through PCR sequencing, the mutations of TGFBR2 in 38 patients with aotric aneurysm and dissction were screened and definited immediately and exactly.The informations of the mutations are abundent and scientific,can be used to analyze and discuss with clinical symptoms. Partâ…¡The retrospective analyses for the clinical data of the 4 patients with TGFBR2 mutationsObjective:Make retrospective analyses for the clinical data of the 4 patients with TGFBR2 mutations.Methods:Contrast the clinical symptoms and mutations of the 4 patients with TGFBR2 mutations with those of the patients with MFS or MFS-related syndromes.Conclusions:In the 4 mutations we obtained from our reserch, one is the disease causing gene mutations of Loeys-Dietz syndrom;one is discoved for 1st time,it is possible to be the disease causing gene mutations of Loeys-Dietz syndrom;the another two are controversial mutations reported by abroad institutions.In the 4 patiens with TGFBR2 mutations,two are likely to Loeys-Dietz syndrom,the other two are likely to some MFS-related syndromes els.