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5. Allelic frequencies of FBN1 gene polymorphisms and genetic analysis of italian families with Marfan syndrome.

Author

Mottes M, Mirandola S, Rigatelli F, Zolezzi F, Lisi V, Gordon D, and Pignatti PF

Subjects
Female, Fibrillin-1, Fibrillins, Gene Frequency, Genetic Markers, Haplotypes, Humans, Italy, Linkage Disequilibrium, Male, Pedigree, Phenotype, Alleles, Marfan Syndrome genetics, Microfilament Proteins genetics, Polymorphism, Genetic
Abstract

The fibrillin gene (FBN1) is the disease locus for Marfan syndrome. This disorder shows a high degree of clinical and allelic heterogeneity. Direct mutation screening has proven difficult and inefficient and at present cannot be utilized for routine analysis. In familial cases linkage analysis represents 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 resolution of clinically equivocal cases., (Copyright 2000 S. Karger AG, Basel.)

Published
2000
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