Henney A M, Brotherton D H, Child A H, Humphries S E, Grahame R
Centre for Genetics of Cardiovascular Disorders, University College and Middlesex School of Medicine, Rayne Institute, London.
Br J Rheumatol. 1992 Mar;31(3):169-74. doi: 10.1093/rheumatology/31.3.169.
We carried out a segregation analysis comparing the inheritance of collagen gene markers and joint hypermobility syndrome in two extended families. Our results exclude the genes encoding type III (COL3A1), type V alpha 2 chain (COL5A2) and type VI alpha 3 chain (COL6A3) unambiguously in both families. The simultaneous exclusion of both the type 1 alpha 1 and alpha 2 chain genes in the same family was not possible: COL1A1, but not COL1A2 was excluded in one and COL1A2, but not COL1A1 was excluded in the second. There was no suggestion of strong linkage to either of these loci. These data do not support the hypothesis that JHS in these families is caused by mutations in these collagen genes.
我们对两个大家庭进行了分离分析，比较胶原基因标记物的遗传情况和关节过度活动综合征。我们的结果明确排除了两个家庭中编码III型（COL3A1）、V型α2链（COL5A2）和VI型α3链（COL6A3）的基因。在同一个家庭中同时排除I型α1和α2链基因是不可能的：在一个家庭中排除了COL1A1而不是COL1A2，在另一个家庭中排除了COL1A2而不是COL1A1。没有迹象表明与这些位点有强连锁关系。这些数据不支持这些家庭中的关节过度活动综合征是由这些胶原基因突变引起的这一假设。
