中国汉族两个马凡综合征家系FBN1基因的一个新突变  

A novel mutation of FBNI gene is identified in two Chinese families with Marfan syndrome

作　　者：刘丹[1] 郭洪[1] 王凯[1] 杨康[2] 白云[1] 

机构地区：[1]第三军医大学基础部医学遗传学教研室,重庆400038 [2]第三军医大学西南医院胸心外科,重庆400038

出　　处：《国际遗传学杂志》2011年第4期169-173,共5页International Journal of Genetics

摘　　要：目的对两个常染色体显性遗传的马凡综’合征家系进行基因诊断，并探讨其临床特点。方法完成家系调查和系谱分析，通过聚合酶链式反应和直接测序的方法对收集到的两个家系中的成员进行原纤维蛋白1（fibrillin1，FBNl）基因的突变检测。结果两个家系均呈常染色体显性遗传模式。对两个家系成员进行FBNl基因突变检测发现，在两个家系的患者中发现一个相同的突变位点，即FBNl第27号外显子3463位碱基由G变为A（3463G〉A），导致原纤维蛋白1第1155位氨基酸由天冬氨酸变为天冬酰胺（Asp1155Asn），而两个家系的正常成员及选取的100名健康对照中均未发现该突变位点。结论先证者均符合Ghent标准诊断为马凡综合征，基因诊断发现两家系中相同的突变位点3463G〉A为中国汉族马凡综合征患者中首次报道。Objective To confirm clinical diagnosis of Marian syndrome via mutational analysis. To compare the mutational difference between these Chinese patients with the patients reported previously. To characterize clinical features of Marfan patients in two families. Methods Family investigation and pedigree analysis were performed in these two families, and mutation of FBN1 gene was detected by combining polymerase chain reaction （PCR） followed with direct DNA sequencing. Results These two families were characterized as an autosomal dominant inheritance. Molecular genetic analysis on all family members demonstrated that a unique mutation of FBN1 geue, a G-to-A substitution in exon 27, was identified on the affected members, but not unaffected or healthy controls, in both of these two families. This mutation resulted in amino acid change from Asp to Asn at 1155. Literature review showed that this mutation was not reported previously. Conclusion The two Marfan syndrome families were caused by a unique mutation 3463 G 〉 A in FBN1 gene. This mutation is novel and has not been reported previous- ly. It is of very interest to know whether this novel gene is unique to Chinese patients or not yet identified from Non-Chinese patients.

关 键 词：马凡综合征 原纤维蛋白基因1 基因诊断 家系 

分 类 号：R7[医药卫生—临床医学] R4