一家系板层状鱼鳞病TGM1基因突变分析

发布时间：2018-03-18 03:04

  本文选题：板层状鱼鳞病　切入点：转谷氨酰氨酶　出处：《广东医学》2017年23期 　论文类型：期刊论文

【摘要】：目的对一家系板层状鱼鳞病(LI)患者转谷氨酰氨酶1(TGM1)基因突变检测。方法采用聚合酶反应扩增TGM1基因所有的外显子及其邻近的剪切点并进行直接测序。结果 1例LI患者的TGM1基因存在杂合突变,核苷酸序列第587位发生错义突变,碱基由C突变成T,TGM1基因编码的蛋白第197位的脯氨酸转换成亮氨酸突变(p.Pro197Leu)。患者家庭成员未发现TGM1基因突变。结论 TGM1基因突变可能是本例LI患者的致病基因。
[Abstract]:Objective to detect the mutation of transglutaminase 1 (TGM1) gene in a family with lamellar ichthyosis. Methods all exons of TGM1 gene and its adjacent shearing sites were amplified by polymerase reaction and sequenced directly. There was heterozygosity in TGM1 gene in Li patients. A missense mutation occurred in the 587 nucleotide sequence. The gene mutation of TGM1 gene was not found in the family members of the patients. Conclusion the mutation of TGM1 gene may be a pathogenic gene in Li patients.
【作者单位】： 广州医科大学附属武警广东省总队医院皮肤科;广州军区总医院附属157分院皮肤科;
【基金】：广东省医学科学技术研究基金项目(编号:A2017423)
【分类号】：R440;R758.52
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本文编号：1627689