中国人自身免疫性多内分泌腺病综合征Ⅰ型AIRE基因突变

Autoimmune regulator gene mutations in a Chinese family with autoimmune polyendocrinopathy syndrome type Ⅰ

目的研究一个中国自身免疫性多内分泌腺病综合征Ⅰ型（autoimmune polyendocrinopathy syndrome type Ⅰ，APS-Ⅰ）家系自身免疫调节因子（autoimmune regulator，AIRE）基因突变。方法采用聚合酶链反应和DNA直接测序技术对该家系成员进行AIRE突变位点检测，应用限制性酶切分析的方法证实，并用生物信息学方法进行结构和功能预测。结果患儿具有AIRE的A19T和R257X的复合杂合突变，患儿父亲仅有第1外显子的A19T突变，与本家系无亲缘关系的100名健康人不存在这一突变；患儿母亲仅有第6外显子的R257X突变。结论发现中国APS-Ⅰ患儿存在AIRE突变，经检索人类基因突变数据库和最新文献，A19T尚未见报道，R257X尚未在亚洲人中报道。

Objective To identify the mutation of the autoimmune regulator gene （AIRE） in a Chinese family with autoimmune polyendocrinopathy syndrome type Ⅰ （APS Ⅰ）. Methods The AIRE gene mutations were detected using PCR and direct DNA sequencing. Restriction enzyme analysis was used to confirm the mutations and bioinformatie methods were used to predict the possible impact of the mutations on the structure and function of the AIRE protein. Results A compound heterozygous mutation of A19T/ R257X was detected in the proband. Her father had the A19T mutation in exon 1, but this mutation was not detected in 100 unrelated healthy individuals. Her mother had the R257X mutation in exon 6. Conclusion This is the first report about AIRE mutations in Chinese APS- Ⅰ kindred. The A19T mutation identified in this study has not been reported in the human gene mutation database （HGMD） ; the R257X has not been reported in Asians.