PT - JOURNAL ARTICLE AU - J de Groote AU - P A Farndon AU - M V Kilpatrick AU - A de Paepe AU - J W Oorthuys AU - N C Nevin AU - A H Child AU - F M Pope TI - Linkage data for Marfan syndrome and markers on chromosomes 1 and 11. AID - 10.1136/jmg.27.2.82 DP - 1990 Feb 01 TA - Journal of Medical Genetics PG - 82--85 VI - 27 IP - 2 4099 - http://jmg.bmj.com/content/27/2/82.short 4100 - http://jmg.bmj.com/content/27/2/82.full SO - J Med Genet1990 Feb 01; 27 AB - 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 theta = 0.1. The other chromosome 1 markers typed (MUCI, NGFB, D1S8) excluded close linkage. Negative lod scores with two chromosome 11q22 markers (D11S84, D11S148) excluded at least 20 cM in this area (Z = less than -2), which was chosen for study as two enzymes responsible for collagen degradation (collagenase and stromelysin) are localised to this region.