Mutations in the γ2 chain gene (LAMC2) of kalinin/laminin 5 in the junctional forms of epidermolysis bullosa
Mutations in the γ2 chain gene (LAMC2) of kalinin/laminin 5 in the junctional forms of epidermolysis bullosa
复制标题
大疱性表皮松解症交界处加里宁/层粘连蛋白 5 的 γ2 链基因 (LAMC2) 突变
DOI：
10.1038/ng0394-293
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发表时间：
1994
期刊：
影响因子：
30.8
通讯作者：
J. Uitto
中科院分区：
文献类型：
--
作者：
L. Pulkkinen;A. Christiano;T. Airenne;H. Haakana;K. Tryggvason;J. Uitto
交界性大疱性表皮病（JEB）是一种常染色体隐性遗传疾病，其特征是在真皮-表皮基底膜内形成水疱。基于识别卡林蛋白表位的免疫荧光分析，已经提出了透明层蛋白（卡林蛋白/层粘连蛋白5）的基因作为某些形式的JEB的候选物。我们用异源双链分析法研究了层粘连蛋白γ2链cDNA在JEB中的突变。一名患者表现出纯合剪接位点突变，而另一个是杂合的缺失-插入，导致一个等位基因提前终止密码子。我们的数据提示在某些形式的JEB中存在层粘连蛋白γ2链基因（LAMC 2）的突变。
Junctional epidermolysis bullosa (JEB) is an autosomal recessive disorder characterized by blister formation within the dermal–epidermal basement membrane. Genes for the lamina lucida protein, kalinin/laminin 5, have been proposed as candidates for some forms of JEB, based on immunofluorescence analysis recognizing kalinin epitopes. We studied the cDNA of laminin γ2 chain for mutations in JEB using heteroduplex analysis. One patient showed a homozygous splice site mutation while another was heterozygous for a deletion–insertion, resulting in a premature termination codon in one allele. Our data implicate mutations in the laminin γ2 chain gene (LAMC2) in some forms of JEB.