title: DNA diagnostics of the Marfan syndrome: application of amplifiable polymorphic markers.
abstract: The diagnosis of Marfan syndrome (MFS) is still based on careful clinical examination. There are, however, many factors creating problems in the firm establishment of the correct diagnosis. After the identification of the defective gene in MFS, fibrillin 1 (FBN1), several mutations in this gene have been reported. Since so far all but one of the mutations in FBN1 have been family specific, a common diagnostic DNA test for all MFS patients is not to be expected in the near future. Here, we have utilized four polymorphic markers in the diagnostics in MFS families from different populations. Two of the markers, FBN1a and a novel FBN1b, are intragenic markers of FBN1 and two others, D15S103 (G113) and CYP19, are very close to and most probably flank FBN1. The combined use of the multiallelic markers proved highly useful in MFS diagnostics providing informativeness in all analysed families.
authors.affiliation: Department of Human Molecular Genetics, National Public Health Institute, Helsinki, Finland.
authors.forename: T
authors.initials: T
authors.lastname: Rantamäki
authors.forename: L
authors.initials: L
authors.lastname: Lönnqvist
authors.forename: L
authors.initials: L
authors.lastname: Karttunen
authors.forename: K
authors.initials: K
authors.lastname: Kainulainen
authors.forename: L
authors.initials: L
authors.lastname: Peltonen
mesh_terms: D000293:Adolescent; D000328:Adult; D001483:Base Sequence; D002648:Child; D002884:Chromosomes, Human, Pair 15; D004252:DNA Mutational Analysis / Q000379:methods*; D017931:DNA Primers; D005260:Female; D000071838:Fibrillin-1; D000071837:Fibrillins; D008040:Genetic Linkage; D005819:Genetic Markers; D005838:Genotype; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008382:Marfan Syndrome / Q000175:diagnosis* / Q000235:genetics*; D008840:Microfilament Proteins / Q000235:genetics*; D008969:Molecular Sequence Data; D010375:Pedigree; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D017384:Sequence Deletion; D054392:Adipokines
chemical_list: D017931:DNA Primers; D000071838:Fibrillin-1; D000071837:Fibrillins; D005819:Genetic Markers; D008840:Microfilament Proteins; C000605722:FBN1 protein, human; D054392:Adipokines