Mutation and haplotype studies of familial Mediterranean fever reveal new ancestral relationships and evidence for a high carrier frequency with reduced penetrance in the Ashkenazi Jewish population

Article Abstract:

Studies support a heterozygote advantage underlying familial Mediterranean fever. By cloning the MEFV gene linked to this recessive disorder, researchers have been able to determine 11 mutations that accounted for nearly 80% of carrier chromosomes in 90 symptomatic individuals. A broader ethnic testing sample revealed mutations on multiple microsatellite haplotypes.

Fever, Relapsing fever

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Age estimates of two common mutations causing factor XI deficiency: recent genetic drift is not necessary for elevated disease incidence among Ashkenazi Jews

Article Abstract:

Coagulation factor XI deficiency in Ashkenazi Jews has been found to be independent of demographic changes occurring in the 1500s and 1600s. Frequent occurrence of the type II mutation in both Ashkenazi and Iraqi Jews indicates that it surfaced before the separation of these two ethnic groups, and has since generated variants.

Blood clotting disorders, Blood coagulation disorders, Genetic aspects

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