中华皮肤科杂志 ›› 2010, Vol. 43 ›› Issue (4): 266-268.

• 论著 • 上一篇    下一篇

一婴儿期发病的慢性家族性良性天疱疮家系ATP2C1基因突变研究

徐哲1,张立新2,李丽3,林志淼4,杨勇5,马琳6   

  1. 1. 首都医科大学附属北京儿童医院皮肤科
    2. 北京首都医科大学附属北京儿童医院皮肤科
    3. 首都医科大学附属北京儿童医院
    4. 北京大学第一医院
    5. 北京大学第一医院皮肤科
    6. 北京市儿童医院皮肤科
  • 收稿日期:2009-07-02 修回日期:2009-08-03 出版日期:2010-04-15 发布日期:2010-04-07
  • 通讯作者: 徐哲 E-mail:mona_liu@sina.com
  • 基金资助:

    北京市自然科学基金

Mutation analysis of ATP2C1 gene in a Chinese pedigree with infancy-onset Hailey-Hailey disease （HHD）

  • Received:2009-07-02 Revised:2009-08-03 Online:2010-04-15 Published:2010-04-07

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摘要：

目的 对一慢性家族性良性天疱疮家系进行测序，寻找ATP2C1基因外显子上的突变点，丰富关于ATP2C1基因突变的信息。方法 提取一慢性家族性良性天疱疮家系中先证者及包括其父母、舅舅在内的家族中6名其他成员的外周血DNA进行测序，与人类基因组ATP2C1序列相比较找出突变点，另外测50例正常人血的ATP2C1基因，除外单核苷酸多态性。结果 家系中先证者、其舅舅及其母亲在ATP2C1的第9外显子上存在一杂合性的剪切突变，第699位缺失腺嘌呤（A），导致其下游第12位的氨基酸序列出现终止密码TGA。反向测序亦证实该突变。该家系中先证者父亲、其他3名成员及50例正常人均未见该突变。结论 本研究慢性家族性良性天疱疮家系中先证者及其母亲及舅舅ATP2C1的第9外显子上存在一杂合性的剪切突变，突变来自于母系并向下遗传。

关键词: [关键词] 家族性, 天疱疮, 基因突变

Abstract:

Objective To analyse the mutation of ATP2C1 gene in a Chinese pedigree with infancy-onset HHD. Methods Blood samples were collected from the proband, his affected uncle, 4 unaffected family members, and 50 unrelated normal controls. DNA was extracted and PCR was performed to amplify all the 27 exons and flanking sequences of ATP2C1 gene followed by DNA sequencing. Results A heterozygous splicing mutation, c.699delA, which resulted in a premature termination mutation （PTC） in exon 9 at amino acid 12, was identified in the ATP2C1 gene of the proband, his uncle and mother. Reverse DNA sequencing confirmed the mutation, which was absent in 4 other family members and 50 normal controls. Conclusion A heterozygous splicing mutation, which may be maternally inherited, is detected in exon 9 of ATP2C1 gene in the proband, his mother and uncle.

Key words: [Key words] familial, pemphigus, gene mutation