Marfan综合征FBN1基因新的剪接位点的置换突变

A Novel Substitutional Mutation at Splice Site of FBN1 Gene in Marfan Syndrome

目的对Marfan综合征(MFS)患者的原纤维蛋白-1基因(FBN1)进行突变筛查,探讨MFS患者新的FBN1突变。方法应用聚合酶链反应(PCR)和变性高效液相色谱法(DHPLC)对1例MFS患者FBN1的65个外显子进行突变筛查,对DHPLC图形异常的PCR扩增片段用DNA测序鉴定突变位点及性质。用限制性片段长度多态性分析法(RFLP)进一步证实突变。结果发现1种新的FBN1剪接位点的置换突变(Intron29+4A>T)。结论FBN1的Intron29+4A>T可能为该MFS患者的发病原因。

Objective To detect novel mutation in fibrillin-Ⅰ gene（FBN1） by screening technigue from a Marfan syndrome patient. Methods Polymerase chain reaction and denaturing high-performance liquid chromatography（DHPLC） were used to screen FBNI mutation. The DNA amplification fragment of which DHPLC elution profile showed different from the corresponding normal elution profile was sequenced to identify the position and type of the mutation. Restriction fragment length polymorphism was employed to further prove the mutation. Results A novel substitutional mutation（Intron29＋4A〉T） at splice site of FBN1 was found in this patient, and identified by UMD databasis as a new mutation of FBN1. Conclusion The substitutional mutation at splice site（Intron29＋4A〉T） of FBN1 might be the pathogeny of this Marfan syndrome patient.