title: Differential allelic expression of a fibrillin gene (FBN1) in patients with Marfan syndrome.
abstract: Marfan syndrome is a connective-tissue disorder affecting cardiovascular, skeletal, and ocular systems. The major Marfan locus has been identified as the FBN1 gene on chromosome 15; this codes for the extracellular-matrix protein fibrillin, a 350-kD constituent of the 8-10-nm elastin-associated microfibrils. We identified five MFS patients who were heterozygous for an RsaI restriction-site dimorphism in the 3' UTR of the FBN1 gene. This expressed variation was used to distinguish the mRNA output from each of the two FBN1 alleles in fibroblast cultures from these five patients. Three of the patients were shown to produce < 5% of the normal level of FBN1 transcripts from one of their alleles. This null-allele phenotype was not observed in 10 nonmarfanoid fibroblast cell lines.
authors.affiliation: University of Oxford, Institute of Molecular Medicine, John Radcliffe Hospital, England.
authors.forename: D
authors.initials: D
authors.lastname: Hewett
authors.forename: J
authors.initials: J
authors.lastname: Lynch
authors.forename: A
authors.initials: A
authors.lastname: Child
authors.forename: H
authors.initials: H
authors.lastname: Firth
authors.forename: B
authors.initials: B
authors.lastname: Sykes
mesh_terms: D000328:Adult; D000483:Alleles; D001483:Base Sequence; D002884:Chromosomes, Human, Pair 15; D004252:DNA Mutational Analysis; D017931:DNA Primers; D015252:Deoxyribonucleases, Type II Site-Specific; D000071838:Fibrillin-1; D000071837:Fibrillins; D015870:Gene Expression; D014644:Genetic Variation; D006579:Heterozygote; D006801:Humans; D008297:Male; D008382:Marfan Syndrome / Q000235:genetics*; D008840:Microfilament Proteins / Q000235:genetics*; D008875:Middle Aged; D008969:Molecular Sequence Data; D010375:Pedigree; D012150:Polymorphism, Restriction Fragment Length; D012333:RNA, Messenger / Q000032:analysis; D054392:Adipokines
chemical_list: D017931:DNA Primers; D015252:Deoxyribonucleases, Type II Site-Specific; D000071838:Fibrillin-1; D000071837:Fibrillins; D008840:Microfilament Proteins; D012333:RNA, Messenger; C000605722:FBN1 protein, human; D054392:Adipokines; C040158:GTAC-specific type II deoxyribonucleases