Dong Jiamei, Bu Juan, Du Wei, Li Yuan, Jia Yanlei, Li Jianchang, Meng Xiaoli, Yuan Minghui, Peng Xiaojuan, Zhou Aimin, Wang Lejin
Department of Ophthalmology, Peking University Third Hospital, Key Laboratory of Vision Loss and Restoration, Ministry of Education, Beijing, P.R. China.
Mol Vis. 2012;18:81-6. Epub 2012 Jan 13.
Screening of mutations in the fibrillin-1 (FBN1) gene in a Chinese family with autosomal dominant Marfan syndrome (MFS).
It has been reported that FBN1 mutations account for approximately 90% of Autosomal Dominant MFS. FBN1 mutations were analyzed in a Chinese family of 36 members including 13 MFS patients. The genomic DNAs from blood leukocytes of the patients and their relatives were isolated and the entire coding region of FBN1 was amplified by PCR. The sequence of FBN1 was dertermined with an ABI 3100 Genetic Analyzer.
A previously unreported the missense mutation G214S (caused by a 640 A→G heterozygous change) in FBN1 was identified in the Chinese family. The mutation was associated with the disease phenotype in patients, but not detected in their relatives or in the 100 normal controls.
This is the first report of molecular characterization of FBN1 in the MFS family of Chinese origin. Our results expand the spectrum of FBN1 mutations causing MFS and further confirm the role of FBN1 in the pathogenesis of MFS. Direct sequencing of the mutation in FBN1 may be used for diagnosis of MFS.
对一个常染色体显性遗传马方综合征（MFS）中国家系进行原纤维蛋白-1（FBN1）基因突变筛查。
据报道，FBN1基因突变约占常染色体显性遗传MFS的90%。对一个包含13名MFS患者的36名成员的中国家系进行FBN1基因突变分析。从患者及其亲属的血液白细胞中分离基因组DNA，通过聚合酶链反应（PCR）扩增FBN1的整个编码区。使用ABI 3100基因分析仪测定FBN1的序列。
在中国家系中鉴定出FBN1基因一个先前未报道的错义突变G214S（由640 A→G杂合变化引起）。该突变与患者的疾病表型相关，但在其亲属或100名正常对照中未检测到。
这是首次对源自中国的MFS家系中FBN1进行分子特征报道。我们的结果扩展了导致MFS的FBN1基因突变谱，并进一步证实了FBN1在MFS发病机制中的作用。FBN1基因突变的直接测序可用于MFS的诊断。
