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发明公开
CN101768589A IPEX综合征主效基因FOXP3突变基因及其检测方法和试剂盒 无效 - 驳回

IPEX综合征主效基因FOXP3突变基因及其检测方法和试剂盒
摘要：
本发明公开了IPEX综合征主效基因FOXP3突变基因，其第一段内含子区第68869～68872个碱基AAT和第70207个碱基T缺失；该突变基因为临床约30％的IPEX综合征患者的发病机制提供了新的理论依据，有助于临床上开展疑似IPEX综合征患者的筛查工作以及携带该突变基因的父母的筛查工作，便于生育指导和优生优育；同时，该突变基因为IPEX综合征的药物治疗提供了新的靶点，为IPEX综合征的新药研发提供了理论依据；本发明还提供了该FOXP3突变基因的检测方法和检测试剂盒，操作简便、快速，成本低。
摘要（英）：

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.

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