Two novel mutations in fibrillin-1 gene of Marfan syndrome / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To detect novel mutations in the fibrillin-1(FBN1) gene by screening the gene from 9 patients with Marfan syndrome (MFS).</p><p><b>METHODS</b>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.</p><p><b>RESULTS</b>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).</p><p><b>CONCLUSION</b>The findings suggested that the frameshift mutation (4307insTCGT) and point mutation (5309G>A) caused the corresponding patients to have MFS.</p>