[Two gene mutations in fibrillin 1 of Marfan syndrome].
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.


CONCLUSIONS
Intron29 +4A > T and 8080C > T of FBN1 are possibly the pathogenesis of the MFS patients.
Department of Medical Laboratory, Provincial Hospital, Fujian Medical University, Fuzhou, Fujian, 350001 P. R. China. chenxijun157@163.com
Xi-jun
XJ
Chen
Yan-an
YA
Wu
Fa-wen
FW
Chen
Fa-lin
FL
Chen
Yi
Y
Huang
Xiao-li
XL
Huang
Xiao-ning
XN
Ma
Tong
T
Chen
D000293:Adolescent; D001483:Base Sequence; D004252:DNA Mutational Analysis; D005260:Female; D000071838:Fibrillin-1; D000071837:Fibrillins; D006801:Humans; D008297:Male; D008382:Marfan Syndrome / Q000235:genetics*; D008840:Microfilament Proteins / Q000235:genetics*; D009154:Mutation; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D000077294:Receptor, Transforming Growth Factor-beta Type II; D018125:Receptors, Transforming Growth Factor beta / Q000235:genetics*; D054392:Adipokines
D000071838:Fibrillin-1; D000071837:Fibrillins; D008840:Microfilament Proteins; D017346:Protein Serine-Threonine Kinases; D000077294:Receptor, Transforming Growth Factor-beta Type II; D018125:Receptors, Transforming Growth Factor beta; C000605722:FBN1 protein, human; D054392:Adipokines