Collod G, Babron M C, Jondeau G, Coulon M, Weissenbach J, Dubourg O, Bourdarias J P, Bonaïti-Pellié C, Junien C, Boileau C
INSERM U383, Hôpital Necker-Enfants Malades, Université René Descartes, Paris V, France.
Nat Genet. 1994 Nov;8(3):264-8. doi: 10.1038/ng1194-264.
Marfan syndrome (MFS) is an autosomal dominant connective-tissue disorder characterized by skeletal, ocular and cardiovascular defects of highly variable expressivity. The diagnosis relies solely on clinical criteria requiring anomalies in at least two systems. By excluding the chromosome 15 disease locus, fibrillin 1 (FBN1), in a large French family with typical cardiovascular and skeletal anomalies, we raised the issue of genetic heterogeneity in MFS and the implication of a second locus (MFS2). Linkage analyses, performed in this family, have localized MFS2 to a region of 9 centiMorgans between D3S1293 and D3S1283, at 3p24.2-p25. In this region, the highest lod score was found with D3S2336, of 4.89 (theta = 0.05). By LINKMAP analyses, the most probable position for the second locus in MFS was at D3S2335.
马凡综合征（MFS）是一种常染色体显性遗传性结缔组织疾病，其特征为骨骼、眼部和心血管方面存在高度可变表达性的缺陷。诊断仅依赖于临床标准，要求至少两个系统出现异常。在一个具有典型心血管和骨骼异常的法国家庭中，通过排除15号染色体疾病位点原纤蛋白1（FBN1），我们提出了MFS中基因异质性以及第二个位点（MFS2）的影响问题。在这个家庭中进行的连锁分析已将MFS2定位到3p24.2 - p25区域中D3S1293和D3S1283之间9厘摩的区域。在该区域，与D3S2336的最高对数优势分数为4.89（θ = 0.05）。通过LINKMAP分析，MFS中第二个位点的最可能位置在D3S2335处。
