You Position: Home > Paper
Transglutaminase 1 gene mutations in a family with lamellar ichthyosis
( views:419, downloads:44 )
- Author:
- No author available
- Journal Title:
- CHINESE JOURNAL OF DERMATOLOGY
- Issue:
- 3
- DOI:
- 10.3760/j.issn:0412-4030.2006.03.004
- Key Word:
- 鳞癣,板层状;突变;转谷酰胺酶1基因
Abstract： 目的探讨一个板层状鱼鳞病家系转谷氨酰胺酶1基因(TGM1)的突变.方法提取板层状鱼鳞病患者及家族成员的基因组DNA,采用PCR扩增TGM1基因所有的外显子及其邻近的剪切点并进行双向直接测序,并对TGM1基因的同源性进行分析.结果板层状鱼鳞病患者TGM1基因存在异常:外显子3的第504位碱基由胞嘧啶突变为胸腺嘧啶,使第142位氨基酸由精氨酸(R)转变为半胱氨酸(C),即R142C错义突变;外显子7的第1122位碱基由胞嘧啶突变为胸腺嘧啶,使348位氨基酸由精氨酸(R)突变为终止密码(R348X),导致其编码的蛋白缺失了C端的470个氨基酸.其父亲为R142C杂合子,母亲为R348X突变杂合子;R142C错义突变位于TGM1基因保守区域.结论该板层状鱼鳞病患者存在转谷氨酰胺酶1基因的R142C错义突变和R348X无义突变.
- [1]杨勇,马铁牛,杨海珍,等.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[J].2003,(9).
- [2]Melino G,Steinert PM,Rossi A,etc.Transglutaminase 1 mutations in lamellar ichthyosis. Loss of activity due to failure of activation by proteolytic processing.[J].1998,273(22).
- [3]Palotie A,Ignatius J,Kere J,etc.Clinical and morphological correlations for transglutaminase 1 gene mutations in autosomal recessive congenital ichthyosis.[J].1999,7(6).
- [4]L J, Russell,J J, DiGiovanna,N, Hashem,etc.Linkage of autosomal recessive lamellar ichthyosis to chromosome 14q.[J].1994,55.
- [5]Nemes Z,Marekov LN,Fesus L,etc.A novel function for transglutaminase 1: attachment of long-chain omega-hydroxyceramides to involucrin by ester bond formation.[J].1999,96(15).
- [6]V C, Yee,L C, Pedersen,I, Le Trong,etc.Three-dimensional structure of a transglutaminase: human blood coagulation factor XIII.[J].1994,91.
- [7]M, Huber,I, Rettler,K, Bernasconi,etc.Mutations of keratinocyte transglutaminase in lamellar ichthyosis.[J].1995,267.
- [8]Bouadjar B,Jobard F,Prud'homme JF,etc.Mutations in ichthyin a new gene on chromosome 5q33 in a new form of autosomal recessive congenital ichthyosis.[J].2004,13(20).
- [9]Esposito G,Paparo F,Rinaldi M,etc.Transglutaminase 1 gene mutations in Italian patients with autosomal recessive lamellar ichthyosis.[J].2001,116(5).
- [10]Suzuki Y,Akiyama M,Matsuo I,etc.Compound heterozygous TGM1 mutations including a novel missense mutation L204Q in a mild form of lamellar ichthyosis.[J].2001,116(6).