A 2ND LOCUS FOR MARFAN-SYNDROME MAPS TO CHROMOSOME-3P24.2-P25
A 2ND LOCUS FOR MARFAN-SYNDROME MAPS TO CHROMOSOME-3P24.2-P25
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DOI：
10.1038/ng1194-264
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发表时间：
1994-11-01
期刊：
影响因子：
30.8
通讯作者：
BOILEAU, C
中科院分区：
文献类型：
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作者：
COLLOD, G;BABRON, MC;BOILEAU, C
马凡氏综合征（MFS）是一种常染色体显性结缔组织疾病，以骨骼、眼部和心血管缺陷为特征，具有高度可变的表达性。诊断仅依赖于至少两个系统异常的临床标准。通过排除具有典型心血管和骨骼异常的法国大家族的15号染色体疾病位点原纤维蛋白1 (FBN1)，我们提出了MFS的遗传异质性问题以及第二个位点（MFS2）的含义。在该家族中进行的连锁分析将MFS2定位在D3S1293和D3S1283之间9 cm的区域，位于3p24.2-p25。在该区域，D3S2336的lod评分最高，为4.89 （θ =0.05）。通过LINKMAP分析，MFS中第二个位点最可能的位置是D3S2335。
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.