GENE ASSOCIATED WITH SELF-INFLAMMATORY DISEASE OR AUTOIMMUNE DISEASE, AND USE THEREOF

摘要

PROBLEM TO BE SOLVED: To establish a method for examining the presence or absence of a predisposing cause of self-inflammatory diseases or autoimmune diseases such as NNS by identifying SNPs associated with the diseases, to produce a non-human mammal having the SNPs, and to provide uses of the mammal.

SOLUTION: There are provided a method for examining the presence or absence of a predisposing cause of self-inflammatory diseases or autoimmune diseases including a step to detect a mutation to cause substitution of 129th glycine to another amino acid, wherein the 129th glycine is present in an amino acid sequence of an active-type proteasome β5i subunit in a gene encoding the proteasome β5i subunit in a biospecimen of an examinee; a non-human mammal having the mutation; and use of the mammal.

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