Identification of a novel FBN1 gene mutation in a Chinese family with Marfan syndrome.

ABSTRACT:

Purpose

To identify the mutation in the fibrillin-1 gene (FBN1) in a Chinese family with Marfan syndrome (MFS).

Methods

Patients and family members were given complete physical, ophthalmic, and cardiovascular examinations. Genomic DNA was extracted from leukocytes of venous blood of six individuals in the family and 170 healthy Chinese individuals. All of the 65 coding exons and their flanking intronic boundaries of FBN1 were amplified in the proband by polymerase chain reaction and followed by direct sequencing. The mutation identified in the proband was screened in the other family members and the 170 healthy Chinese individuals by direct sequencing. Protein conservation analysis was performed in six species using an online ClustalW tool. Protein structure was modeled base

SUBMITTER: Meng B 

PROVIDER: S-EPMC3185025 | biostudies-literature | 2011

REPOSITORIES: biostudies-literature