TY - JOUR T1 - Linkage data for Marfan syndrome and markers on chromosomes 1 and 11. JF - Journal of Medical Genetics JO - J Med Genet SP - 82 LP - 85 DO - 10.1136/jmg.27.2.82 VL - 27 IS - 2 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 Y1 - 1990/02/01 UR - http://jmg.bmj.com/content/27/2/82.abstract N2 - 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. ER -