See original punlication at:
http://www.faseb.org/ashg97/f6790.html
Regarding genetics and distinguishing FPF from FMF:
Gene localisation for an autosomal dominant familial periodic
fever
J. Mulley, K. Saar, G. Hewitt, F. Ruschendorf, H. Phillips,
A. Colley, D. Sillence,
A. Reis and M. Wilson.
Department of Clinical Genetics, The New Childrens Hospital, Westmead, Sydney,
Australia.
Benign autosomal dominant periodic fever is characterised by recurrent fever
associated with abdominal pain. The condition is similar to that previously
described as Hibernian fever. Frequent recombination with the marker D16S2622
within 1Mb of familial Mediterranean fever at 16p13.3, excluded allelism between
these clinically similar conditions. Subsequently a genome search detected
linkage to a cluster of markers at 12p13, with a multipoint lod score of
6.14 at D12S356. Assuming penetrance of 90 per cent the FPF gene maps to
a 19cM interval between D12S314 and D12S364. This interval includes the dentatorubropallidoluysian
atrophy locus which with FPF gave a twopoint lod score of 3.7 at theta of
zero. Positional candidate genes may now be selected for mutation analysis
to determine the molecular basis for this disorder, which may give clues
to the molecular basis of other rare clinical variants of FPF, including
familial Mediterranean fever, periodic fever Dutch type associated with hyperimmunoglobulinemia
D and FMF-like syndrome with amyloidosis.
|