title: Allelic frequencies of FBN1 gene polymorphisms and genetic analysis of italian families with Marfan syndrome.
abstract: The fibrillin gene (FBN1) is the disease locus for Marfan syndrome. This disorder shows a high degree of clinical and allelic heterogeneity. Direct mutation screening has proven difficult and inefficient and at present cannot be utilized for routine analysis. In familial cases linkage analysis represents a useful tool for molecular diagnosis. We have determined the allelic frequencies of 5 polymorphic markers within the FBN1 locus in the Italian population and have successfully employed them for prenatal diagnosis and resolution of clinically equivocal cases.
authors.affiliation: Istituto di Biologia e Genetica, Università di Verona, Italia. mottes@borgoroma.univr.it
authors.forename: M
authors.initials: M
authors.lastname: Mottes
authors.forename: S
authors.initials: S
authors.lastname: Mirandola
authors.forename: F
authors.initials: F
authors.lastname: Rigatelli
authors.forename: F
authors.initials: F
authors.lastname: Zolezzi
authors.forename: V
authors.initials: V
authors.lastname: Lisi
authors.forename: D
authors.initials: D
authors.lastname: Gordon
authors.forename: P F
authors.initials: PF
authors.lastname: Pignatti
mesh_terms: D000483:Alleles; D005260:Female; D000071838:Fibrillin-1; D000071837:Fibrillins; D005787:Gene Frequency; D005819:Genetic Markers; D006239:Haplotypes; D006801:Humans; D007558:Italy; D015810:Linkage Disequilibrium; D008297:Male; D008382:Marfan Syndrome / Q000235:genetics*; D008840:Microfilament Proteins / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D011110:Polymorphism, Genetic; D054392:Adipokines
chemical_list: D000071838:Fibrillin-1; D000071837:Fibrillins; D005819:Genetic Markers; D008840:Microfilament Proteins; C000605722:FBN1 protein, human; D054392:Adipokines