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J Med Genet. 1990 Feb;27(2):78-81.

Linkage analysis of five fibrillar collagen loci in a large French Marfan syndrome family.

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Laboratoire de Biochimie et de Génétique Moléculaire, Hôpital Ambroise Paré, Boulogne, France.


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.

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