[马凡综合征原纤蛋白1中的两个基因突变]
[Two gene mutations in fibrillin 1 of Marfan syndrome].
作者信息
Chen Xi-jun, Wu Yan-an, Chen Fa-wen, Chen Fa-lin, Huang Yi, Huang Xiao-li, Ma Xiao-ning, Chen Tong
机构信息
Department of Medical Laboratory, Provincial Hospital, Fujian Medical University, Fuzhou, Fujian, 350001 P. R. China.
出版信息
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2007 Aug;24(4):440-2.
OBJECTIVE
To detect novel mutations in the fibrillin 1 (FBN1) and transforming growth factor beta receptor type II (TGFBR2) genes by screening the genes from 14 patients with Marfan syndrome.
METHODS
Denaturing high performance liquid chromatography (DHPLC) was introduced to screen for FBN1 and TGFBR2 mutations exon-by-exon. The DNA amplification fragments which DHPLC elution profiles showed different from the corresponding normal elution profile were sequenced to identify the positions and types of mutations. Restriction fragment length polymorphism (RFLP) was employed to further prove the mutations when needed.
RESULTS
Two gene mutations of the FBN1 were found in the patients with Marfan syndrome. They were a novel substitutional mutation (Intron29 +4A > T) of FBN1 and a recurrent nonsense mutation (8080C >T) of FBN1.
CONCLUSION
Intron29 +4A > T and 8080C > T of FBN1 are possibly the pathogenesis of the MFS patients.
目的
通过对14例马凡综合征患者的原纤维蛋白1（FBN1）和转化生长因子βⅡ型受体（TGFBR2）基因进行筛查，检测新的基因突变。
方法
采用变性高效液相色谱法（DHPLC）逐外显子筛查FBN1和TGFBR2基因的突变。对DHPLC洗脱图谱显示与相应正常洗脱图谱不同的DNA扩增片段进行测序，以确定突变的位置和类型。必要时采用限制性片段长度多态性（RFLP）进一步证实突变。
结果
在马凡综合征患者中发现了2个FBN1基因突变。它们是FBN1的一个新的替换突变（内含子29 +4A>T）和FBN1的一个复发性无义突变（8080C>T）。
结论
FBN1的内含子29 +4A>T和8080C>T可能是马凡综合征患者发病的原因。
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