A Nonsense Mutation in Transglutaminase1Gene and Loss of Enzyme Activity in a Family with Lamellar Ichthyosis
- VernacularTitle: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
- Author:
Yong YANG
;
Tieniu MA
;
Haizhen YANG
;
Dingfang BU
;
Ke WANG
;
Ping TU
;
Xuejun ZHU
- Publication Type:Journal Article
- Keywords:
Ichthyosis,lamellar;
Transglutaminases;
Codon,nonsense
- From:
Chinese Journal of Dermatology
2003;0(09):-
- CountryChina
- Language:Chinese
-
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 TGM1gene 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 TGM1gene 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 TGM1gene.
