FBN1 mutation in Chinese patients with Marfan syndrome and its gene diagnosis using haplotype linkage analysis.
OBJECTIVE
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.


METHODS
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).


RESULTS
SSCP band alteration was detected in the PCR products for exon 25 in MFS(A) II:1. 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.


CONCLUSIONS
The combination of mutation detection and chromosome haplotype analysis can provide better evidence for a genetic diagnosis of MFS.
Wang
Bing
B
Department of Spine Surgery, Second Affiliated Xiangya Hospital, Central South University, Changsha 410011, China. bingwang20021972@yahoo.com.cn
Hu
Dongxu
D
Xia
Jiahui
J
Li
Qi
Q
Yang
Jinfu
J
Lu
Guohua
G
D000071838:Fibrillin-1; D000071837:Fibrillins; D008040:Genetic Linkage; D006239:Haplotypes; D006801:Humans; D008382:Marfan Syndrome / Q000175:diagnosis* / Q000235:genetics*; D008840:Microfilament Proteins / Q000235:genetics*; D009154:Mutation; D018807:Polymorphism, Single-Stranded Conformational; D054392:Adipokines
D000071838:Fibrillin-1; D000071837:Fibrillins; D008840:Microfilament Proteins; C000605722:FBN1 protein, human; D054392:Adipokines