Edwards M J, Challinor C J, Colley P W, Roberts J, Partington M W, Hollway G E, Kozman H M, Mulley J C
Newcastle and Northern New South Wales Genetics Service, Australia.
Am J Med Genet. 1994 Oct 15;53(1):65-71. doi: 10.1002/ajmg.1320530114.
Simple ectopia lentis (EL) was studied in a large family, by clinical examination and analysis of linkage to markers in the region of FBN1, the gene for fibrillin which causes Marfan syndrome on chromosome 15. No patient had clinical or echocardiographic evidence of Marfan syndrome, although there was a trend towards relatively longer measurements of height; lower segment; arm span; middle finger, hand, and foot length in the affected members of the family, compared with unaffected sibs of the same sex. Analysis of linkage to intragenic FBN1 markers was inconclusive because they were relatively uniformative. Construction of a multipoint background map from the CEPH reference families identified microsatellite markers linked closely to FBN1 which could demonstrate linkage of EL in this family to the FBN1 region. LINKMAP analysis detected a multipoint lod score of 5.68 at D15S119, a marker approximately 6 cM distal to FBN1, and a multipoint lod score of 5.04 at FBN1. The EL gene in this family is likely to be allelic to Marfan syndrome, and molecular characterization of the FBN1 mutation should now be possible.
在一个大家庭中对单纯性晶状体异位（EL）进行了研究，通过临床检查以及与15号染色体上导致马凡综合征的原纤维蛋白基因FBN1区域内标记的连锁分析。尽管该家族中患病成员与同性未患病同胞相比，存在身高、下段身高、臂展、中指、手和脚长度测量值相对较长的趋势，但没有患者有马凡综合征的临床或超声心动图证据。与FBN1基因内标记的连锁分析没有得出结论，因为这些标记提供的信息相对较少。利用CEPH参考家系构建的多点背景图谱确定了与FBN1紧密连锁的微卫星标记，这些标记能够证明该家族中EL与FBN1区域存在连锁关系。LINKMAP分析在D15S119（一个位于FBN1下游约6厘摩的标记）处检测到多点对数优势分数为5.68，在FBN1处检测到多点对数优势分数为5.04。该家族中的EL基因可能与马凡综合征等位，现在应该可以对FBN1突变进行分子特征分析。
