[一个中国自身免疫性多内分泌腺病综合征I型家系中的自身免疫调节基因突变]
[Autoimmune regulator gene mutations in a Chinese family with autoimmune polyendocrinopathy syndrome type I].
作者信息
Liu Caihong, Shi Yan, Yin Huaiqing, Li Hong, Fan Shulan, Wu Shirun, Yuan Pingfei
机构信息
Department of Pediatrics, the First Hospital of Shanxi Medical University, Taiyuan, Shanxi, 030001 P.R.China.
出版信息
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2010 Feb;27(1):18-22. doi: 10.3760/cma.j.issn.1003-9406.2010.01.004.
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 bioinformatic 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.
目的
鉴定一个患有Ⅰ型自身免疫性多内分泌腺病综合征（APS-Ⅰ）的中国家系中自身免疫调节因子基因（AIRE）的突变情况。
方法
采用聚合酶链反应（PCR）和直接DNA测序检测AIRE基因突变。用限制性酶切分析确认突变，并采用生物信息学方法预测突变对AIRE蛋白结构和功能的可能影响。
结果
先证者检测到A19T/R257X复合杂合突变。她的父亲在第1外显子有A19T突变，但在100名无关健康个体中未检测到该突变。她的母亲在第6外显子有R257X突变。
结论
这是关于中国APS-Ⅰ家系中AIRE突变的首次报道。本研究鉴定出的A19T突变在人类基因突变数据库（HGMD）中未见报道；R257X突变在亚洲人中未见报道。
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