Two gene mutations in fibrillin 1 of Marfan syndrome.
- Author:
Xi-jun CHEN
1
;
Yan-an WU
;
Fa-wen CHEN
;
Fa-lin CHEN
;
Yi HUANG
;
Xiao-li HUANG
;
Xiao-ning MA
;
Tong CHEN
Author Information
- Publication Type:Journal Article
- MeSH: Adolescent; Base Sequence; DNA Mutational Analysis; Female; Fibrillin-1; Fibrillins; Humans; Male; Marfan Syndrome; genetics; Microfilament Proteins; genetics; Mutation; Polymerase Chain Reaction; Polymorphism, Restriction Fragment Length; Protein-Serine-Threonine Kinases; genetics; Receptors, Transforming Growth Factor beta; genetics
- From: Chinese Journal of Medical Genetics 2007;24(4):440-442
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo 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.
METHODSDenaturing 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.
RESULTSTwo 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.
CONCLUSIONIntron29 +4A > T and 8080C > T of FBN1 are possibly the pathogenesis of the MFS patients.
