摘要
自身免疫性多内分泌腺病综合征Ⅰ型（APS-Ⅰ）是一种罕见的常染色体隐性遗传病，致病基因为自身免疫调节因子基因。已报道的致病性突变包括无义突变、错义突变、沉默突变、插入和缺失以及剪接位点突变等，该文就APS-Ⅰ致病基因的突变特征归纳综述。
Autoimmune polyendocrinopathy syndrome type Ⅰ（APS-Ⅰ） is a rare autosomal recessive disorder caused by mutations in autoimmune regulator gene（AIRE）. A number of mutations have been described in the AIRE gene of patients with APS-Ⅰ, including nonsense mutation, missense mutation, silent mutation, splice site mutation, insertions and deletions mutation,et al.The mutation characteristics of the APS-Ⅰ pathogenic gene have been reviewed in the article.
出处
《国际儿科学杂志》
2010年第1期45-48,共4页
International Journal of Pediatrics
