[Two novel mutations in fibrillin-1 gene of Marfan syndrome].
OBJECTIVE
To detect novel mutations in the fibrillin-1(FBN1) gene by screening the gene from 9 patients with Marfan syndrome (MFS).


METHODS
Denaturing high-performance liquid chromatography (DHPLC) was used to screen for FBN1 mutation exon by exon. The DNA amplification fragments of which the DHPLC elution profiles showed difference in comparison with the corresponding normal elution profile were sequenced to identify the position and nature of mutation. The detected mutations were further proved by allele specific PCR or restriction fragment length polymorphism.


RESULTS
Two novel FBN1 gene mutations were found and identified in two Marfan patients respectively, one of which was a small insertion in exon 34 at nucleotide 4307-4308 (4307insTCGT) and the other a missense mutation in exon 43 at nucleotide 5309 (5309G>A).


CONCLUSIONS
The findings suggested that the frameshift mutation (4307insTCGT) and point mutation (5309G>A) caused the corresponding patients to have MFS.
Huang
Xiaoli
X
Department of Medical Laboratory, Provincial Hospital, Fujian Medical University, Fuzhou, Fujian, 350001 P. R. China.
Wu
Yanan
Y
Chen
Falin
F
Huang
Yi
Y
Ma
Xiaoning
X
Chen
Tong
T
D000328:Adult; D002851:Chromatography, High Pressure Liquid / Q000379:methods; D004252:DNA Mutational Analysis / Q000379:methods; D005091:Exons / Q000235:genetics; D000071838:Fibrillin-1; D000071837:Fibrillins; D016368:Frameshift Mutation; D006801:Humans; D008297:Male; D008382:Marfan Syndrome / Q000235:genetics*; D008840:Microfilament Proteins / Q000235:genetics*; D008875:Middle Aged; D017354:Point Mutation; D054392:Adipokines
D000071838:Fibrillin-1; D000071837:Fibrillins; D008840:Microfilament Proteins; C000605722:FBN1 protein, human; D054392:Adipokines