Allelic frequencies of FBN1 gene polymorphisms and genetic analysis of Italian families with Marfan syndrome

Monica Mottes; Stefania Mirandola; Federica Rigatelli; Francesca Zolezzi; Veronica Lisi; Derek Gordon; Pier Franco Pignatti

doi:10.1159/000022910

Allelic frequencies of FBN1 gene polymorphisms and genetic analysis of Italian families with Marfan syndrome

Monica Mottes, Stefania Mirandola, Federica Rigatelli, Francesca Zolezzi, Veronica Lisi, Derek Gordon, Pier Franco Pignatti

Research output: Contribution to journal › Article › peer-review

4 Scopus citations

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 (C) 2000 S. Karger AG, Basel.

Original language	English (US)
Pages (from-to)	175-179
Number of pages	5
Journal	Human Heredity
Volume	50
Issue number	3
DOIs	https://doi.org/10.1159/000022910
State	Published - Jan 1 2000
Externally published	Yes

All Science Journal Classification (ASJC) codes

Genetics
Genetics(clinical)

Access to Document

10.1159/000022910

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title = "Allelic frequencies of FBN1 gene polymorphisms and genetic analysis of Italian families with Marfan syndrome",

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 (C) 2000 S. Karger AG, Basel.",

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Allelic frequencies of FBN1 gene polymorphisms and genetic analysis of Italian families with Marfan syndrome. / Mottes, Monica; Mirandola, Stefania; Rigatelli, Federica; Zolezzi, Francesca; Lisi, Veronica; Gordon, Derek; Pignatti, Pier Franco.

In: Human Heredity, Vol. 50, No. 3, 01.01.2000, p. 175-179.

Research output: Contribution to journal › Article › peer-review

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AU - Rigatelli, Federica

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AU - Lisi, Veronica

AU - Gordon, Derek

AU - Pignatti, Pier Franco

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AB - 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 (C) 2000 S. Karger AG, Basel.

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