马凡氏综合征与1号和11号染色体上标记物的连锁数据。
Linkage data for Marfan syndrome and markers on chromosomes 1 and 11.
作者信息
de Groote J, Farndon P A, Kilpatrick M V, de Paepe A, Oorthuys J W, Nevin N C, Child A H, Pope F M
机构信息
Dermatology Research Group, Clinical Research Centre, Harrow, Middlesex.
出版信息
J Med Genet. 1990 Feb;27(2):82-5. doi: 10.1136/jmg.27.2.82.
Abstract
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.
摘要
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。
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本文引用的文献
1
The Marfan syndrome: a deficiency in chemically stable collagen cross-links.马凡综合征：化学稳定的胶原蛋白交联缺陷。
N Engl J Med. 1981 Oct 22;305(17):988-91. doi: 10.1056/NEJM198110223051705.
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Marfan syndrome: abnormal alpha 2 chain in type I collagen.马凡综合征：I型胶原蛋白中的α2链异常。
Proc Natl Acad Sci U S A. 1981 Dec;78(12):7745-9. doi: 10.1073/pnas.78.12.7745.
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Letter: Collagen of Marfan syndrome is abnormally soluble.信函：马凡综合征的胶原蛋白异常可溶。
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Segregation of all four major fibrillar collagen genes in the Marfan syndrome.马凡综合征中所有四个主要纤维状胶原基因的分离。
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