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Fibroblast growth factor receptor 2 (FGFR2): genomic sequence and variations
R G Ingersoll1, W A Paznekas, A K Tran
1Institute of Genetic Medicine, Center for Craniofacial Development and Disorders, Department of Pediatrics, The Johns Hopkins University School of Medicine, Baltimore 21287-3914, USA.
Cytogenetics and Cell Genetics
|February 22, 2002
Summary
Researchers detailed the FGFR2 gene structure, identifying 22 exons and numerous polymorphisms. This refined understanding of Fibroblast Growth Factor Receptor 2 (FGFR2) aids in studying its role in craniosynostosis syndromes and cancer.
Area of Science:
- Genetics
- Molecular Biology
Background:
- Fibroblast growth factor receptors (FGFRs) are crucial in development and cancer.
- FGFR2 mutations are linked to multiple craniosynostosis syndromes.
- The FGFR2 gene has the most extensive genomic structure within the FGFR family.
Purpose of the Study:
- To refine and expand the genomic organization of the FGFR2 gene.
- To identify and characterize single nucleotide polymorphisms (SNPs) and other genetic variations within FGFR2.
- To provide a comprehensive genetic map for future disease association studies and mutation detection.
Main Methods:
- Sequencing of over 119 kb of genomic DNA (PACs, cosmids, PCR products).
- Assembly of a ~175 kb region of the FGFR2 gene.
- Comparison with NCBI database sequences and direct sequencing of CEPH DNAs.
- Analysis of both coding and non-coding regions for polymorphisms.
Main Results:
- Verified at least 22 exons in FGFR2, differing from previous reports of 20 exons.
- Identified alternative splicing in some exons.
- Found significant discrepancies in exon sizes compared to prior data.
- Detected over 300 potential SNPs, with 14 verified in PCR products and 21 additional polymorphisms via direct sequencing.
- Characterized 27 SNPs, 2 insertion polymorphisms, and 5 microsatellite polymorphisms in non-coding regions.
Conclusions:
- The study presents a refined genomic structure for the FGFR2 gene.
- A comprehensive catalog of FGFR2 polymorphisms, including SNPs, insertions, and microsatellites, has been established.
- These genetic markers will facilitate future research into FGFR2-associated diseases, including craniosynostosis and tumorigenesis, and improve mutation detection strategies.