中华皮肤科杂志 ›› 2012, Vol. 45 ›› Issue (2): 129-130.

• 研究报道 • 上一篇    下一篇

二例可变性红斑角化症患者GJB3、4基因突变研究

周欣1,任军2,田歆1,梁艳华3,张三泉1,黄振明4,刘晓坤5,陈美华2   

  1. 1. 广州市皮肤病防治所
    2. 厦门大学附属中山医院皮肤科
    3.
    4. 广州市皮肤病防治所皮肤科
    5. 厦门福建医科大学厦门中山医院
  • 收稿日期:2011-03-23 修回日期:2011-10-09 出版日期:2012-02-15 发布日期:2012-01-31
  • 通讯作者: 周欣 E-mail:rain050405@163.com
  • 基金资助:

    连接蛋白26在 KID综合症中的作用机制研究

Mutation analysis of GJB3 and GJB4 genes in two patients with erythrokeratodermia variabilis

  • Received:2011-03-23 Revised:2011-10-09 Online:2012-02-15 Published:2012-01-31

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摘要：

目的 探讨2例散发可变性红斑角化症（EKV）患者的GJB3和GJB4基因突变。 方法 提取EKV患者、家族成员及正常人基因组DNA，采用PCR扩增GJB3和GJB4基因所有外显子及其邻近的剪切点，进行双向直接测序。结果 1例EKV患者GJB4基因未见变化，GJB3基因的第134位碱基鸟嘌呤（G）被胞嘧啶（C）替换，导致蛋白质第45位的甘氨酸转换成丙氨酸（G45A）。另1例EKV患者GJB3、GJB4均未发现突变。结论 1例 EKV患者存在GJB3基因G45A错义突变。

关键词: 突变

Abstract:

Objective To detect the mutations of GJB3 and GJB4 genes in two sporadic cases of erythrokeratodermia variabilis （EKV）. Methods Genomic DNA was extracted from two sporadic patients with EKV, their family members, and 100 normal human controls. All the exons and adjacent splice sites of GJB3 and GJB4 genes were amplified by PCR. Mutation scanning was carried out via direct bidirectional DNA sequencing. Results A G134C mutation was found at the GJB3 gene in patient 1, which caused a substitution of glycine by alanine at codon 45 （G45A）. No mutation was found in the GJB4 gene in case 1 or GJB3 and GJB4 genes in case 2. Conclusion A missence mutation G45A in GJB3 gene is found in a patient with EKV.

Key words: Mutation