Marfan syndrome has been associated with approximately 562 mutations in the 
fibrillin-1 (FBN1) gene. Mutation scanning of the FBN1 gene with DNA direct 
sequencing is time-consuming and expensive because of its large size. This study 
analyzed the diagnostic value of high-resolution melting analysis as an 
alternative method for scanning of the FBN1 gene. A total of 75 polymerase chain 
reaction (PCR) amplicons (179-301bp, average 256bp) that covered the complete 
coding regions and splicing sites were evaluated on the 96-well LightCycler 
system. Melting curves were analyzed as fluorescence derivative plots (-dF/dT 
vs. temperature). To determine the sensitivity of this method, a total of 82 
samples from patients with Marfan syndrome and 50 unaffected individuals were 
analyzed. All mutations reported in this study had been confirmed previously by 
direct sequencing analysis. Melting analysis identified 48 heterozygous 
variants. The variant c.3093 G>T (exon 25) was incorrectly identified by melting 
curve analysis. The sensitivity of the technique in this sample was 98.78% 
(81/82). This study demonstrated that high-resolution melting analysis is a 
reliable gene scanning method with greater speed than DNA sequencing. Our 
results support the use of this technology as an alternative method for the 
diagnosis of Marfan syndrome as well as its suitability for high-throughput 
mutation scanning of other large genes.