M. Mottes et al., Allelic frequencies of FBN1 gene polymorphisms and genetic analysis of Italian families with Marfan syndrome, HUMAN HERED, 50(3), 2000, pp. 175-179
The fibrillin gene (FBN1) is the disease locus for Marfan syndrome. This di
sorder shows a high degree of clinical and allelic heterogeneity. Direct mu
tation screening has proven difficult and inefficient and at present cannot
be utilized for routine analysis. In familial cases linkage analysis repre
sents a useful tool for molecular diagnosis. We have determined the allelic
frequencies of 5 polymorphic markers within the FBN1 locus in the Italian
population and have successfully employed them for prenatal diagnosis and r
esolution of clinically equivocal cases. Copyright (C) 2000 S. Karger AG, B
asel.