Genetic and physical localization of the gene causing familial Mediterranean fever
- ARB/NIAMS, Bethesda, MD (United States); and others
Familial Mediterranean fever (FMF) is a recessively inherited disease characterized by acute attacks of fever and serositis. The gene causing FMF, designated MEF, is located on chromosome 16p13. We have genotyped a panel of 65 families (non-Ashkenazi Jewish, Armenian, and Arab) for 15 polymorphic markers from distal chromosome 16p. FMF families from all three populations show linkage to chromosome 16. Analysis of recombinants, as well as multipoint linkage data, place MEF in the interval between D16S246 (p218EP6) and D16S138 (N2), a genetic distance of 1-2 cM. We observed a total of 3 recombinants at the telomeric flanking marker D16S246, and 5 at the centromeric flanking marker D16S138. We have previously shown that a haplotype extending from D16S291 to D16S94 on the telomeric side of MEF is strongly associated with FMF among the Moroccan Jewish population, probably representing a founder effect. Here we report that the 2.5 kb allele of the closest telomeric flanking marker D16S246 (p218EP6) was associated with FMF in both Moroccan and non-Moroccan Jews, although not in Armenians and Arabs. Allelic associations for the centromeric flanking markers were much weaker in the Jewish population, suggesting that MEF may be closer to the telomeric end of the D16S246-D16S318 interval. Physical mapping indicates that this interval covers less than 1 Mb of genomic DNA. We will present data on a YAC contig covering this region.
- OSTI ID:
- 134377
- Report Number(s):
- CONF-941009-; ISSN 0002-9297; TRN: 95:005313-1111
- Journal Information:
- American Journal of Human Genetics, Vol. 55, Issue Suppl.3; Conference: 44. annual meeting of the American Society of Human Genetics, Montreal (Canada), 18-22 Oct 1994; Other Information: PBD: Sep 1994
- Country of Publication:
- United States
- Language:
- English
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