Identification of mutations in the transgluataminase 1 gene in lamellar ichthyosis
Identification of mutations in the transgluataminase 1 gene in lamellar ichthyosis
复制标题
板层状鱼鳞病转谷氨酰胺酶 1 基因突变的鉴定
DOI：
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发表时间：
1999
影响因子：
3.6
通讯作者：
A. Christiano
中科院分区：
文献类型：
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作者：
J. Tok;M. Garzon;P. Cserhalmi;H. Lam;J. Spitz;A. Christiano
翻译后摘要：层状鱼鳞病（LI）是一种常染色体隐性遗传性角化疾病。已在几个患有这种疾病的家族中鉴定出转氨酶1基因（TGM1）的突变。我们分析了两个不相关的家庭与LI影响的后代。家族1包括受影响的单卵双胞胎，其中在外显子6的氨基酸残基R315L处鉴定出纯合子G至T颠换。在未受影响的母亲中也发现了这种突变。在由一名受影响婴儿组成的家族2中，外显子8中的T至G颠换导致苯丙氨酸变为缬氨酸，F400 V，外显子4中的C至T转换导致脯氨酸变为亮氨酸，P248 L。在该家系中，未患病的父亲发现突变F400V，未患病的母亲发现突变P248L。这些发现扩展了越来越多的文献记录TGM1基因突变作为某些层状鱼鳞病病例的分子基础。
Abstract: Lamellar ichthyosis (LI) is an autosomal recessive disorder of cornification. Mutations in the transglutaminase 1 gene (TGM1) have been identified in several families with this disorder. We analyzed two unrelated families with offspring affected with LI. Family 1 included affected monozygotic twins, in which a homozygous G‐to‐T transversion was identified in exon 6 at amino acid residue R315L. This mutation was also identified in the unaffected mother. In family 2, which consisted of one affected infant, a T‐to‐G transversion in exon 8 resulted in a change of phenylalanine to valine, F400V, and a C‐to‐T transition in exon 4 resulted in a change of proline to leucine, P248L. In this family, the mutation F400V was found in the unaffected father, and the mutation P248L was identified in the unaffected mother. These findings extend the growing body of literature documenting mutations in the TGM1 gene as the molecular basis of certain cases of lamellar ichthyosis.
人表皮角质形成细胞转谷氨酰胺酶 I 基因的组织和进化。
DOI：
10.1073/pnas.89.10.4476
发表时间：
1992
影响因子：
11.1
作者：
Polakowska,RR;Eickbush,T;Falciano,V;Razvi,F;Goldsmith,LA
通讯作者：
Goldsmith,LA
DOI：
10.1073/pnas.90.21.10325
发表时间：
1993-11-01
影响因子：
11.1
作者：
GANGULY, A;ROCK, MJ;PROCKOP, DJ
通讯作者：
PROCKOP, DJ