Rantamäki T, Lönnqvist L, Karttunen L, Kainulainen K, Peltonen L
Department of Human Molecular Genetics, National Public Health Institute, Helsinki, Finland.
Eur J Hum Genet. 1994;2(1):66-75. doi: 10.1159/000472343.
The diagnosis of Marfan syndrome (MFS) is still based on careful clinical examination. There are, however, many factors creating problems in the firm establishment of the correct diagnosis. After the identification of the defective gene in MFS, fibrillin 1 (FBN1), several mutations in this gene have been reported. Since so far all but one of the mutations in FBN1 have been family specific, a common diagnostic DNA test for all MFS patients is not to be expected in the near future. Here, we have utilized four polymorphic markers in the diagnostics in MFS families from different populations. Two of the markers, FBN1a and a novel FBN1b, are intragenic markers of FBN1 and two others, D15S103 (G113) and CYP19, are very close to and most probably flank FBN1. The combined use of the multiallelic markers proved highly useful in MFS diagnostics providing informativeness in all analysed families.
马凡综合征（MFS）的诊断仍基于细致的临床检查。然而，在准确诊断的确立过程中存在诸多问题。在确定MFS的缺陷基因——原纤蛋白1（FBN1）之后，已报道了该基因的多种突变。由于迄今为止FBN1中除一种突变外其余均具有家族特异性，近期内不太可能出现针对所有MFS患者的通用诊断性DNA检测。在此，我们在来自不同人群的MFS家系诊断中使用了四个多态性标记。其中两个标记，FBN1a和一个新的FBN1b，是FBN1的基因内标记，另外两个标记，D15S103（G113）和CYP19，与FBN1非常接近且极有可能位于其侧翼。多等位基因标记的联合使用在MFS诊断中被证明非常有用，为所有分析的家系提供了信息。
