Novel mutations in the gene encoding secreted lymphocyte antigen-6/urokinase-type plasminogen activator receptorrelated protein-1 (SLURP-1) and description of five ancestral haplotypes in patients with Mal de Meleda
Novel mutations in the gene encoding secreted lymphocyte antigen-6/urokinase-type plasminogen activator receptorrelated protein-1 (SLURP-1) and description of five ancestral haplotypes in patients with Mal de Meleda
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DOI：
10.1046/j.1523-1747.2003.12062.x
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发表时间：
2003-03-01
影响因子：
6.5
通讯作者：
Fischer, J
中科院分区：
文献类型：
--
作者：
Marrakchi, S;Audebert, S;Fischer, J
malde Meleda是一种隐性、侵袭性掌足底角化病，我们之前发现了编码分泌淋巴细胞抗原-6/尿激酶型纤溶酶原激活物受体相关蛋白-1 （SLURP-1）的基因突变。在本报告中，我们描述了两个新的突变：(i)一个始祖突变，它在一个大的近交突尼斯家系中将保守的半胱氨酸残基（C99Y）改变为酪氨酸（ii）一个信号序列突变（W15R），它在一个德国家庭中是纯合的，在一个苏格兰患者中是杂合的。在地中海盆地周围国家的69名患者中观察到4种祖先单倍型，在德国和苏格兰患者中发现了另外一种单倍型。
Mal de Meleda is a recessive, transgressive palmoplantar keratoderma for which we previously identified mutations in the gene encoding secreted lymphocyte antigen-6/urokinase-type plasminogen activator receptor-related protein-1 (SLURP-1). In this report we describe two new mutations: (i) a founder mutation, which changes a conserved cysteine residue to tyrosine (C99Y) in a large inbred Tunisian pedigree, and (ii) a signal sequence mutation (W15R), which was homozygous in a German family and heterozygous in a Scottish patient. Four ancestral haplotypes were observed in 69 patients from countries around the Mediterranean basin, and an additional haplotype was found in the German and Scottish patients.