中华皮肤科杂志 ›› 2013, Vol. 46 ›› Issue (7): 507-508.

• 研究报道 • 上一篇    下一篇

红细胞生成性原卟啉病基因表达与表现型关系研究

马俊红1,王昕1,肖生祥2   

  1. 1. 清华大学第一附属医院皮肤科
    2. 西安交通大学第二附属医院皮肤科
  • 收稿日期:2012-07-31 修回日期:2012-09-05 出版日期:2013-07-15 发布日期:2013-07-01
  • 通讯作者: 马俊红 E-mail:majh_1@163.com

Relationship between the genotype and phenotype of erythropoietic protoporphyria

  • Received:2012-07-31 Revised:2012-09-05 Online:2013-07-15 Published:2013-07-01
  • Contact: Jun-Hong MA E-mail:majh_1@163.com

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摘要： 目的 探讨一个红细胞生成性原卟啉病家系的基因型与表型的关系。方法 抽取患者家系中部分患者及部分正常人静脉血，PCR检测FECH基因突变情况，实时定量PCR检测FECH基因表达情况。结果 在该家系中检测到1个突变IVS3 + 1G>A，此突变存在于患者和携带者；单倍型分析示所有具有光敏者均携带有IVS3-48C低表达等位基因，而无光敏的携带者为突变基因和IVS3-48T。RT-PCR检测结果显示，患者、携带者和正常人的FECH基因mRNA表达呈递增趋势，与临床症状相符合。 结论 该红细胞生成性原卟啉病家系的临床表型与FECH基因的表达量呈正相关，家系中不同患者临床表现型轻重变化可能是由FECH基因表达量不同所致。

关键词: 卟啉病，红细胞生成性, 基因

Abstract: MA Jun-hong*, WANG Xin, XIAO Sheng-xiang. *Department of Dermatology, First Affiliated Hospital of Tsinghua University, Beijing 100016, China Corresponding author: MA Jun-hong, Email: majh_1@163.com 【Abstract】 Objective To investigate the relationship between the genotype and phenotype of erythropoietic protoporphyria （EPP） in a family. Methods Venous blood samples were collected from two patients with EPP as well as their asymptomatic parents and grandmother. PCR was performed to assess the mutation of FECH gene, and real-time quantitative PCR to detect the expression of FECH gene. Results A mutation IVS3 + 1G > A was detected in the two patients and their mother. Haplotype analysis showed that both patients with photosensitivity carried the wild-type low-expressed allele IVS3-48C, while their mother, the asymptomatic carrier, harbored the normal allele IVS3-48T. As real-time PCR showed, the expression intensity of FECH gene gradually increased from patients, asymptomatic patients to normal individuals. Conclusion The difference in expression intensity of FECH gene may contribute to the variability in clinical presentation of EPP.

Key words: Protoporphyria, erythropoietic