Other

Adelaide Medical Centre for Women and Children

Robert I Richards

John Charles Mulley

Jean-Louis Mandel

Melanie April Pritchard

Michael Lynch

Elizabeth Baker

Ramaiah Nagaraja

Sui Yu

Grant R Sutherland

Eric J Kremer

David Schlessinger

Francis S Collins

Darrell Orlyn Ricke

Nathan Fischel-Ghodsian

Ramen Sood

Deborah L Gumucio

Zuoming Deng

Michael Centola

Ivona Aksentijevichh

Daniel L Kastner

P Paul Liu

Norman A Doggett

Trevor Blake

Mordechai Pras

The invention provides the nucleic acid sequence encoding the protein associated with familial Mediterranean fever (FMF). The cDNA sequence is designated as MEFV. The invention is also directed towards fragments of the DNA sequence, as well as the corresponding sequence for the RNA transcript and fragments thereof. Another aspect of the invention provides the amino acid sequence for a protein (pyrin) associated with FMF. The invention is directed towards both the full length amino acid sequence, fusion proteins containing the amino acid sequence and fragments thereof. The invention is also directed towards mutants of the nucleic acid and amino acid sequences associated with FMF. In particular, the invention discloses three missense mutations, clustered in within about 40 to 50 amino acids, in the highly conserved rfp (B30.2) domain at the C-terminal of the protein. These mutants include M6801, M694V, K695R, and V726A. Additionally, the invention includes methods for diagnosing a patient at risk for having FMF and kits therefor.

Pyrin gene and mutants thereof, which cause familial Mediterranean fever

The DNA sequence spanning the fragile X site on the X human chromosome has been obtained in purified and isolated form. As fragile X is associated with mental retardation, the availability of a DNA which spans this locus permits diagnosis and treatment of the related mental disorders. Polyclonal and monoclonal antibodies to an amino acid sequence encoded by SEQ ID NO:1, a DNA sequence from the Fragile X site, are also disclosed.

Monoclonal and polyclonal antibodies relating to fragile X syndrome

The DNA sequence spanning the fragile X site on the X human chromosome has been obtained in purified and isolated form. As fragile X is associated with mental retardation, the availability of a DNA which spans this locus permits diagnosis and treatment of the related mental disorders.

DNA sequences related to fragile X syndrome

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North Adelaide, Australia

Robert I Richards