PT  - JOURNAL ARTICLE
AU  - de Groote, J
AU  - Farndon, P A
AU  - Kilpatrick, M V
AU  - de Paepe, A
AU  - Oorthuys, J W
AU  - Nevin, N C
AU  - Child, A H
AU  - Pope, F M
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.