title: Linkage analysis of five fibrillar collagen loci in a large French Marfan syndrome family.
abstract: Marfan syndrome consists of a group of dominantly inherited disorders of connective tissue with wide clinical variability. Using the candidate gene approach, we have attempted to map the gene defect in a large French Marfan syndrome family with no ocular manifestations. We performed linkage studies with polymorphic probes for five structural procollagen genes. The data obtained exclude linkage of Marfan syndrome to the two major fibrillar collagen (COL1A1, COL1A2, and COL2A1) genes. These results confirm previously published data obtained from smaller pedigrees. A small positive lod score (Z = 0.99, theta = 0.00) was obtained for the COL3A1-COL5A2 gene cluster located on chromosome 2.
authors.affiliation: Laboratoire de Biochimie et de Génétique Moléculaire, Hôpital Ambroise Paré, Boulogne, France.
authors.forename: C
authors.initials: C
authors.lastname: Boileau
authors.forename: G
authors.initials: G
authors.lastname: Jondeau
authors.forename: C
authors.initials: C
authors.lastname: Bonaiti
authors.forename: M
authors.initials: M
authors.lastname: Coulon
authors.forename: G
authors.initials: G
authors.lastname: Delorme
authors.forename: O
authors.initials: O
authors.lastname: Dubourg
authors.forename: J P
authors.initials: JP
authors.lastname: Bourdarias
authors.forename: C
authors.initials: C
authors.lastname: Junien
mesh_terms: D002874:Chromosome Mapping; D015342:DNA Probes; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D008126:Lod Score; D008297:Male; D008382:Marfan Syndrome / Q000235:genetics*; D010375:Pedigree; D012150:Polymorphism, Restriction Fragment Length; D011347:Procollagen / Q000235:genetics*
chemical_list: D015342:DNA Probes; D011347:Procollagen