FBN1 mutation in Chinese patients with Marfan syndrome and its gene diagnosis using haplotype linkage analysis / 中华医学杂志(英文版)

ABSTRACT

<p><b>OBJECTIVES</b>To analyze the FBN1 mutations in Chinese patients with Marfan syndrome (MFS) and to make a genetic diagnosis based on haplotype linkage analysis for MFS.</p><p><b>METHODS</b>Nine MFS families (17 patients) were analyzed with single strand conformation polymorphism (SSCP) and sequencing. Four primers were designed for the flanking sequences of FBN1 gene and used for haplotype-segregation analysis of MFS(B).</p><p><b>RESULTS</b>SSCP band alteration was detected in the PCR products for exon 25 in MFS(A) II1. Direct sequencing revealed a small 13 bp deletion; the deleted sequence is gccTc Tgcaccca at bases 3243-3456 of the cDNA in exon 25. This mutation was novel. MFS(B) families were analyzed using the haplotype linkage technique. The data suggested that MFS(B) families were linked to the FBN1 gene. The proband's daughter was an asymptomatic patient.</p><p><b>CONCLUSION</b>The combination of mutation detection and chromosome haplotype analysis can provide better evidence for a genetic diagnosis of MFS.</p>