Related Experiment Video
Updated: Jul 29, 2026
Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
Published on: August 15, 2019
Mapping of the familial Mediterranean fever gene to chromosome 16
L Gruberg1, I Aksentijevich, E Pras
1Department of Medicine F, Sheba Medical Center, Tel Hashomer, Israel.
Abstract:
Familial Mediterranean fever (FMF) is an autosomal recessive disease characterized by recurrent attacks of fever, synovitis, peritonitis, or pleurisy. Some patients eventually develop systemic amyloidosis. The biochemical cause of the disease is unknown. We have conducted a genome-wide search for the FMF locus using 125 different DNA markers and mapped the FMF gene to the short arm of chromosome 16. The study was performed on 35 Israeli families primarily of North African and Iraqi origin. For the five markers D16S82 (p41-1 Sacl), D16S80 (24-1 Taq1), D16S84 (pCMM65 Taq1), D16S83 (pEKMDA2-1 Rsal), and HBA (5'HVR Rsal) we obtained maximum lod scores of 2.72 (theta = 0.08), 10.34 (theta = 0.04), 9.66 (theta = 0.050, 9.35 (theta = 0.03), and 14.31 (theta = 0.08), respectively. Multipoint analysis with HBA and D16S84 defined as a fixed loci gave a maximum lod score of 19.86 centromeric to D16S84. Crossovers defined by these markers place the FMF gene in an area of approximately 5 cM between D16S80 and D16S84. Other genes mapped to this area (16p13.3) include phosphodiesterase IB (PDE1B), hydroxyacyl-glutathione hydrolase (HAGH), phosphoglycolate phosphatase (PGP), and the gene that causes adult polycystic kidney disease (PKD1). None of these genes bear an obvious pathophysiological relationship to FMF. Using additional markers from this region we hope to localize more precisely the FMF gene and to offer the possibility of prenatal diagnosis in selected cases. Our ultimate goal is to isolate and characterize the FMF gene.
Insights
Researchers identified the Familial Mediterranean Fever (FMF) gene location on chromosome 16 using genome-wide analysis. This discovery aids in understanding FMF and developing potential prenatal diagnostics.
Area of Science:
- Genetics
- Human Molecular Genetics
- Medical Genetics
Background:
- Familial Mediterranean Fever (FMF) is an autosomal recessive disorder causing recurrent fever, synovitis, peritonitis, and pleurisy.
- Systemic amyloidosis is a potential complication in some FMF patients.
- The underlying biochemical cause of FMF remains unknown.
Purpose of the Study:
- To conduct a genome-wide search for the FMF gene locus.
- To map the FMF gene using DNA markers in affected families.
- To identify the chromosomal region harboring the FMF gene.
Main Methods:
- Genome-wide analysis utilizing 125 distinct DNA markers.
- Linkage analysis performed on 35 Israeli families of North African and Iraqi descent.
- Lod score calculations and multipoint analysis to determine gene localization.
Main Results:
- The FMF gene was mapped to the short arm of chromosome 16 (16p13.3).
- High lod scores were obtained for markers D16S80, D16S84, D16S83, and HBA.
- The FMF gene was localized to a 5 cM region between markers D16S80 and D16S84.
Conclusions:
- The FMF gene locus has been successfully mapped to chromosome 16p13.3.
- This localization provides a basis for further gene isolation and characterization.
- Future research aims to enable prenatal diagnosis for FMF.
