Linkage analysis of five fibrillar collagen loci in a large French Marfan syndrome family.
AUTOR(ES)
Boileau, C
RESUMO
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.
ACESSO AO ARTIGO
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1016924Documentos Relacionados
- Exclusion of the alpha 2(I) and alpha 1(III) collagen genes as the mutant loci in a Marfan syndrome family.
- Linkage analysis in Marfan syndrome.
- Marfan syndrome in a large family: response of family members to a screening programme.
- Linkage studies of four fibrillar collagen genes in three pedigrees with Larsen-like syndrome.
- Linkage analysis in Marfan syndrome.