Novel FBN1 mutations in 2 Chinese Han patients of Marfan syndrome
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摘要:
目的对4例汉族马凡综合征（MFS）患者的原纤蛋白-1（FBN1）基因进行突变筛查，探讨MFS与FBN1基因突变的关系。 方法提取4例患者外周血全基因组DNA，应用PCR-DNA测序的方法进行FBN1基因突变筛查和鉴定。 结果在2例MFS患者FBN1中均发现FBN1突变。其中1例为错义突变，即第63号外显子7892G>A（Cys2631Tyr）；另1例为移码突变，即第50号外显子6258delC，该突变导致提前终止密码子。这两个突变先前均未见报道。 结论FBN1基因突变可能是这2例MFS患者的致病因素。 Abstract:ObjectiveTo detect FBN1 mutation by screening FBN1 gene from 4 patients with Marfan syndrome(MFS)to investigate the correlation between the gene mutation and the MFS. MethodsGenomic DNAs were extracted from whole blood sample of the 4 patients. All 65 exons of FBN1 were amplified by polymerase chain reaction (PCR) followed by Sanger sequencing analysis respectively. ResultsTwo mutations of the FBN1 were found in 2 out of the 4 MFS patients respectively. One was a missense mutation of 7892G>A(C2631Y)and the other frame shift mutation of 6258delC, which producing a premature termination condon (PTC). Both of the mutations were not reported previously. ConclusionThe 2 FBN1 gene mutations are possibly the pathogenesis of the 2 MFS patients. -
Key words:
- Marfan syndrome /
- fibrillin-1 /
- gene mutation /
- DNA sequencing
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