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- Title
Analysis of the fibrillin-1 gene ( FBN1) in patients with Marfan syndrome.
- Authors
Valiev, R. R.; Khusainova, R. I.; Kutuev, I. A.; Khusnutdinova, E. K.
- Abstract
Thirty exons of the fibrillin-1 gene ( FBN1) were screened in patients with Marfan syndrome (MFS), and eleven point mutations, insertions, and deletions were detected. These included two missense mutations resulting in conformational changes of the calcium-binding EGF-like domains of FBN1 and nine polymorphisms located in both coding and noncoding regions of FBN1. Three intragenic polymorphic microsatellite loci— MTS-1, MTS-2, and MTS-4—were analyzed in MFS patients and unrelated healthy controls, and significant differences between these two groups were found for the MTS-2 and MTS-4 allele frequency distributions. Haplotype frequency distributions on wild-type and mutant chromosomes of MFS patients were also significantly different. The predominant haplotype was 2-11-8 on wild-type chromosomes, and 2-2-8 on mutant chromosomes. These data are a prerequisite to working out DNA diagnosis of MFS.
- Subjects
MARFAN syndrome; GENETIC disorders; GENETIC mutation; GENETICS; DNA
- Publication
Molecular Biology, 2006, Vol 40, Issue 6, p922
- ISSN
0026-8933
- Publication type
Article
- DOI
10.1134/S0026893306060112