FOXP3 mutator gene of IPEX (immunodysregulation polyendocrinopathy enteropathy X-linked syndrome) syndrome major gene, detection method and kit thereof

Abstract

The invention discloses an FOXP3 mutator gene of an IPEX (immunodysregulation polyendocrinopathy enteropathy X-linked syndrome) syndrome major gene. The 68869th-68872th base AAT and the 70207th base T of the internal subregion of the first segment of the mutator gene is in deletion. The mutator gene provides a new theory basis for the pathogenesis of about 30 percent of clinical IPEX syndrome patients and is helpful for clinically developing a screening work of suspected IPEX syndrome patients and the screening work of parents carrying the mutator gene and convenient for fertility guidance and good prenatal and postnatal care. Meanwhile, the mutator gene provides a new target spot for the pharmacotherapy of the IPEX syndrome and a theory basis for the research and development of new medicine of the IPEX syndrome. The invention also provides a detection method and a detection kit of the FOXP3 mutator gene, which have simple, convenient and quick operation and low cost.

Description

technical field [0001] The invention relates to a mutant gene, in particular to a mutant gene of FOXP3, the main effect gene of IPEX syndrome, and also relates to a detection method and a detection kit for the mutant gene. Background technique [0002] IPEX syndrome (immune dysfunction, polyendocrinopathy, enteropathy, and X-linked syndrome) is a severe, life-threatening autoimmune disorder that often leads to early death in infancy and a strong family history of its onset . The clinical symptoms are mainly characterized by severe enteropathy, type I diabetes, thyroiditis, skin disease, etc. Patients often die of severe diarrhea or severe infection, mostly in men. There is currently no specific and effective treatment. The research on IPEX syndrome is currently attracting attention, but it is still in the relatively early stage of collecting cases and tracking the pathogenesis. The disease was first reported by Powell et al. in 1982, and more and more cases were gradually...

AI Technical Summary

Problems solved by technology

Although further studies are needed to reveal the various functional domains of the FOXP3 protein, it is clear that mutations in the coding frame of the FOXP3 gene may lead to functional changes in the FOXP3 protein, resulting in IPEX syndrome

[0004] Although mutations in the FOXP3 gene coding frame are found in 70% of IPEX syndrome cases, the severity of clinical symptoms is not related to the type of mutation gene, that is, some cases with the same mutation have different clinical symptoms , the severity and prognosis of the disease are also different, which highly suggests that the degree of functional impairment of FOXP3 protein may not only result from the damage of the functional domain or the mutation of the gene coding frame

In addition, a sharp decrease in FOXP3 gene expression was found in 30% of cases without mutations in the FOXP3 gene coding frame, and recent literature reported that only reducing FOXP3 gene expression rather than inducing gene mutations induced Scurfy small Similar symptoms in mice (Wan YY, Nature, 2007), highly suggest that the sharp decrease in FOXP3 protein expression may be the cause of IPEX syndrome

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