Wordsworth P, Ogilvie D, Akhras F, Jackson G, Sykes B
University of Oxford, Nuffield Department of Pathology, John Radcliffe Hospital.
Br Heart J. 1989 Mar;61(3):300-6. doi: 10.1136/hrt.61.3.300.
Three pedigrees were identified in which mitral valve prolapse seemed to be inherited as a mendelian autosomal dominant trait. The segregation of the genes encoding the major fibrillar collagens present in valve tissue, collagens I and III, was analysed by use of restriction enzyme site variants as genetic markers. In one pedigree there was discordance between the segregation of the disease and markers for all three collagen genes. In another, there was discordance between the disease and markers for both collagen I loci. This is evidence against the disease being generally the result of mutations of the genes encoding the major fibrillar collagens.
发现了三个家系，其中二尖瓣脱垂似乎作为孟德尔常染色体显性性状遗传。通过使用限制性酶切位点变异作为遗传标记，分析了瓣膜组织中主要纤维状胶原（I型和III型胶原）的编码基因的分离情况。在一个家系中，疾病的分离与所有三个胶原基因的标记之间存在不一致。在另一个家系中，疾病与两个I型胶原基因座的标记之间存在不一致。这证明该疾病通常不是由编码主要纤维状胶原的基因突变所致。
