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Updated: Jul 13, 2026

Biological Preparation and Mechanical Technique for Determining Viscoelastic Properties of Zonular Fibers
Published on: December 16, 2021
[Two gene mutations in fibrillin 1 of Marfan syndrome]
Xi-jun Chen1, Yan-an Wu, Fa-wen Chen
1Department of Medical Laboratory, Provincial Hospital, Fujian Medical University, Fuzhou, Fujian, 350001 P. R. China. chenxijun157@163.com
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.
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