Abstract
Six large families with classical Marfan syndrome were studied using markers on chromosomes 1 and 11. Two of three families tested showed negative scores using D1S7 but a third family gave a positive score (0.92) at θ = 0.1. The other chromosome 1 markers typed (MUC1, NGFB, D1S8) excluded close linkage. Negative lod scores with two chromosome 11q22 markers (D11S84, D11S148) excluded at least 20 cM in this area (Z = < -2), which was chosen for study as two enzymes responsible for collagen degradation (collagenase and stromelysin) are localised to this region.
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CITATION STYLE
De Groote, J., Farndon, P. A., Kilpatrick, M. V., De Paepe, A., Oorthuys, J. W., Nevin, N. C., … Pope, F. M. (1990). Linkage data for Marfan syndrome and markers on chromosomes 1 and 11. Journal of Medical Genetics, 27(2), 82–85. https://doi.org/10.1136/jmg.27.2.82
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