Mapping of a gene causing familial Mediterranean fever to the short arm of chromosome 16

Article Abstract:

Familial Mediterranean fever in non-Ashkenazi Jews may be caused by a defective gene located on chromosome 16. Familial Mediterranean fever is an inherited disorder characterized by episodes of fever with abdominal pain, and inflammation of the lungs and joints that mainly occurs in individuals from non-Ashkenazi Jewish, Armenian, Turkish and Middle Eastern Arabic families. Genetic analysis of 27 non-Ashkenazi Jewish families from Israel with familial Mediterranean fever found a linkage between two areas of chromosome 16 and the disorder. The gene for the disorder may be located close to the gene for a portion of the hemoglobin molecule. The underlying biochemical mechanisms that cause the disorder are unknown. Identification of the gene that causes familial Mediterranean fever would enable researchers to determine the physiological basis of the disease.

Jews, Diseases

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Diagnosis of familial Mediterranean fever by a molecular genetics method

Article Abstract:

A diagnostic test called the amplification refractory mutation system (ARMS) appears to be effective in identifying people with familial Mediterranean fever. This disease is characterized by fever, abdominal pain, joint inflammation and a lung condition called pleurisy. The gene associated with this disease was identified in 1997. Researchers used ARMS to screen 107 people with the disease, their family members and a group of healthy volunteers. The test correctly identified 82 people with mutations in the gene but did not detect the mutation in the healthy volunteers.

Evaluation, Gene mutations, Gene mutation, Identification and classification, Genetic screening, Genetic testing

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Neonatal-onset multisystem inflammatory disease responsive to interleukin-1beta inhibition

Article Abstract:

Eighteen patients with neonatal-onset multisystem inflammatory disease are selected to receive anakinra, an interleukin-1-receptor antagonist (1 to 2 mg per kilogram of body weight per day subcutaneously). Daily injection of anakinra markedly improved clinical and laboratory manifestation in patients with neonatal-onset multisystem inflammatory disease, with or without cold-induced autoinflammatory syndrome 1 mutations.

United States, Drug therapy, Inflammation, Dosage and administration, Interleukin-1, Anakinra (Medication), Clinical report

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