Progress in molecular genetics in autoimmune polyendocrinopathy syndrome type Ⅰ
10.3760/cma.j.issn.1673-4408.2010.01.015
- VernacularTitle:自身免疫性多内分泌腺病综合征Ⅰ型分子遗传学研究进展
- Author:
Caihong LIU
;
Yan SHI
- Publication Type:Journal Article
- Keywords:
Autoimmune polyendocrinopathy syndrome type Ⅰ;
Mutation;
Autoimmune regulator gene
- From:
International Journal of Pediatrics
2010;37(1):45-48
- CountryChina
- Language:Chinese
-
Abstract:
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.
