Linkage data for Marfan syndrome and markers on chromosomes 1 and 11.
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.
de Groote
J
J
Dermatology Research Group, Clinical Research Centre, Harrow, Middlesex.
Farndon
P A
PA
Kilpatrick
M V
MV
de Paepe
A
A
Oorthuys
J W
JW
Nevin
N C
NC
Child
A H
AH
Pope
F M
FM
D002878:Chromosomes, Human, Pair 1 / Q000032:analysis*; D002880:Chromosomes, Human, Pair 11 / Q000032:analysis*; D005260:Female; D008040:Genetic Linkage; D005819:Genetic Markers; D006801:Humans; D008126:Lod Score; D008297:Male; D008382:Marfan Syndrome / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D012150:Polymorphism, Restriction Fragment Length
D005819:Genetic Markers