Dietz H C, Pyeritz R E, Hall B D, Cadle R G, Hamosh A, Schwartz J, Meyers D A, Francomano C A
Department of Pediatrics; Johns Hopkins University School of Medicine, Baltimore, Maryland 21205.
Genomics. 1991 Feb;9(2):355-61. doi: 10.1016/0888-7543(91)90264-f.
The Marfan syndrome is a common autosomal dominant disorder of connective tissue. Despite many years of intensive investigation, the primary genetic defect has not yet been identified. Reverse genetic methods, targeted at mapping this disease gene, have resulted in an initial report of linkage of the genetic locus for the Marfan phenotype in Finnish families to two polymorphic markers on chromosome 15. We have investigated four large multiplex American families with classic Marfan syndrome using standard genetic linkage methods. Our data confirm the assignment of the Marfan syndrome gene to chromosome 15, but establish a more centromeric location (defined by markers D15S25 and D15S1) as the most probable site for the genetic defect (lod score = 12.1, theta = 0.00). These data should facilitate identification and characterization of the Marfan syndrome gene and, in selected families, have immediate application to diagnosis of equivocal cases or prenatal counseling.
马凡氏综合征是一种常见的常染色体显性结缔组织疾病。尽管经过多年深入研究，但尚未确定其主要基因缺陷。针对该疾病基因定位的反向遗传学方法，已初步报道芬兰家族中马凡氏综合征表型的基因座与15号染色体上的两个多态性标记连锁。我们使用标准基因连锁方法研究了四个患有典型马凡氏综合征的大型美国家族。我们的数据证实马凡氏综合征基因定位于15号染色体，但确定一个更靠近着丝粒的位置（由标记D15S25和D15S1定义）为基因缺陷的最可能位点（优势对数得分=12.1，重组率=0.00）。这些数据应有助于马凡氏综合征基因的鉴定和特征分析，并且在特定家族中，可立即应用于诊断不明确的病例或进行产前咨询。
