title: Fibulin-2: genetic mapping and exclusion as a candidate gene in Marfan syndrome type 2.
abstract: Fibulin-2 (FBLN2) is a new extracellular matrix protein that has been considered a candidate gene for Marfan syndrome type 2 (locus MFS2) based on chromosomal colocation at 3p24.2-p25 and disease phenotype. In the absence of polymorphic markers reported for FBLN2, direct sequencing of the gene was performed and two intragenic polymorphisms were identified. Linkage was excluded between FBLN2 and the MFS2 gene. Furthermore, two-point lod scores were generated between these markers and anonymous markers arrayed on the genetic map of 3p and closely linked to MFS2. These analyses placed FBLN2 at marker D3S1585.
authors.affiliation: INSERM U383, Hôpital Necker-Enfants Malades, Université René-Descartes, Paris, France.
authors.forename: G
authors.initials: G
authors.lastname: Collod
authors.forename: M L
authors.initials: ML
authors.lastname: Chu
authors.forename: T
authors.initials: T
authors.lastname: Sasaki
authors.forename: M
authors.initials: M
authors.lastname: Coulon
authors.forename: R
authors.initials: R
authors.lastname: Timpl
authors.forename: L
authors.initials: L
authors.lastname: Renkart
authors.forename: J
authors.initials: J
authors.lastname: Weissenbach
authors.forename: G
authors.initials: G
authors.lastname: Jondeau
authors.forename: J P
authors.initials: JP
authors.lastname: Bourdarias
authors.forename: C
authors.initials: C
authors.lastname: Junien
authors.forename: C
authors.initials: C
authors.lastname: Boileau
mesh_terms: D002135:Calcium-Binding Proteins / Q000235:genetics*; D002874:Chromosome Mapping; D002893:Chromosomes, Human, Pair 3; D016326:Extracellular Matrix Proteins / Q000235:genetics*; D005260:Female; D019084:Fluorescent Antibody Technique, Indirect; D006801:Humans; D008297:Male; D008382:Marfan Syndrome / Q000235:genetics*; D010375:Pedigree
chemical_list: D002135:Calcium-Binding Proteins; D016326:Extracellular Matrix Proteins; C084612:fibulin 2