Section 57
Chapter 56,718

Two gene mutations in fibrillin 1 of Marfan syndrome

Chen, X.-j.; Wu, Y.-a.; Chen, F.-w.; Chen, F.-l.; Huang, Y.; Huang, X.-l.; Ma, X.-n.; Chen, T.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 24(4): 440-442


ISSN/ISBN: 1003-9406
PMID: 17680538
Accession: 056717772

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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. 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. 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. Intron29 +4A > T and 8080C > T of FBN1 are possibly the pathogenesis of the MFS patients.

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