de Groote J, Farndon P A, Kilpatrick M V, de Paepe A, Oorthuys J W, Nevin N C, Child A H, Pope F M
Dermatology Research Group, Clinical Research Centre, Harrow, Middlesex.
J Med Genet. 1990 Feb;27(2):82-5. doi: 10.1136/jmg.27.2.82.
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.
利用位于1号和11号染色体上的标记，对六个患有典型马凡综合征的大家族进行了研究。在接受检测的三个家族中，有两个家族使用D1S7显示为阴性评分，但第三个家族在θ = 0.1时给出了阳性评分（0.92）。其他分型的1号染色体标记（MUCI、NGFB、D1S8）排除了紧密连锁。两个11号染色体q22标记（D11S84、D11S148）的负对数优势评分排除了该区域至少20厘摩的范围（Z < -2），之所以选择该区域进行研究，是因为负责胶原蛋白降解的两种酶（胶原酶和基质溶解素）定位于此区域。
