中华皮肤科杂志 ›› 2003, Vol. 36 ›› Issue (9): 487-489.

• 论著 •    下一篇

板层状鱼鳞病患者转谷氨酰胺酶1活性缺失及其基因突变

杨勇1, 马铁牛2, 杨海珍1, 卜定方1, 汪科1, 涂平1, 朱学骏1   

  1. 1. 北京大学第一医院皮肤科, 100034;
    2. 天津长征医院皮肤科
  • 收稿日期:2002-10-17 出版日期:2003-09-15 发布日期:2003-09-15
  • 基金资助:
    北京大学医学部“创建世界一流大学行动计划”青年启动基金

A Nonsense Mutation in Transglutaminase1Gene and Loss of Enzyme Activity in a Family with Lamellar Ichthyosis

YANG Yong1, MA Tie-niu2, YANG Hai-zhen1, BU Ding-fang1, WANG Ke1, TU Ping1, ZHU Xue-jun1   

  1. Department of Dermatology, First Hospital, Peking University, Beijing 100034, China
  • Received:2002-10-17 Online:2003-09-15 Published:2003-09-15

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摘要： 目的 检测一板层状鱼鳞病家系中患者转谷氨酰胺酶1的活性及其编码基因的突变。方法 以免疫组化法检测患者转谷氨酰胺酶1的活性,PCR扩增该基因的全部编码序列,并行DNA测序。结果 患者皮肤转谷氨酰胺酶1的活性完全缺失。PCR结合DNA测序发现患者该基因第4外显子存在异常:第604位碱基由胞嘧啶突变为胸腺嘧啶,使第202位氨基酸由谷氨酰胺(Q)变为终止密码(R202X),导致其编码的蛋白缺失了C端的615个氨基酸。其父母皆为杂合子。结论 板层状鱼鳞病患者转谷氨酰胺酶1的活性完全缺失,是其转谷氨酰胺酶1基因的无义突变,引起编码的蛋白缺陷。

关键词: 鱼鳞病,板层状, 转谷酰胺酶, 密码子,无义

Abstract: Objective To detect the activity of transglutaminase1(TGM1)and gene mutation in a family with lamellar ichthyosis.Methods Immunohistochemistry technique was used to detect the activity of transglutaminase1.Complete encoding sequences of TGM1 gene were analyzed in this family by using PCR-DNA sequencing.Results No activity of transglutaminase1was detected in the proband's skin.A nonsense mutation of C604T located in exon4of TGM1 gene was identified by PCR-DNA sequencing,which caused a premature termination of Q202X and a defective polypeptide truncated by615amino acids in C-terminus.A heterozygous C604T mutation was carried by both of the proband's parents.Conclusions The proband of lamellar ichthyosis in this family shows loss of transglutaminase1activity,which is resulted from a truncated transglutaminase1coded by the homozygous mutant TGM1 gene.

Key words: Ichthyosis,lamellar, Transglutaminases, Codon,nonsense