两个Netherton综合征家系SPINK5基因突变及产物活性的检测  

SPINK5 Genion Mutation and Its Products Activity in Two Families with Netherton Syndrome

作　　者：赵邑[1] 马志红[2] 杨勇[1] 杨淑霞[1] 武玲慎[1] 丁保玲[1] 林志淼[1] 王爱平[1] 卜定方[3] 涂平[1] 

机构地区：[1]北京大学第一医院皮肤性病科,北京100034 [2]黑龙江省牡丹江医学院附属医院皮肤科,黑龙江牡丹江157011 [3]北京大学第一医院中心实验室,北京100034

出　　处：《中国皮肤性病学杂志》2006年第6期341-344,355,共5页The Chinese Journal of Dermatovenereology

基　　金：国家863计划(2002BA711A07);北京市科技计划项目(H020220020610)

摘　　要：目的研究两个Netherton综合征家系的SPINK5基因突变及产物活性情况。方法采用免疫组化法检测SPINK5基因编码的LEKTI在表皮中的活性,用聚合酶链反应-DNA直接测序法检测基因突变。结果患者均有LEKTI的活性降低。一个家系先证者有SPINK5基因1430+2 T>G的纯合性突变。其母亲为该突变的杂合子,表型正常。另一个家系未发现突变。结论两个家系患者均有LEKTI的活性降低,第一个家系的先证者存在SPINK5基因1430+2 T>G纯合性的剪切突变。Objective To identify mutation and of its product activity of SPINK5 gene in two famihes with netherton syndrome（NS）. Methods Immunohistochemistry was performed on skin sections from patients with NS and normal control Polymerase chain reaction （PCR） and DNA sequencing was applied to identify the gene mutation. Results Decrease of LEKTI activity was found in the skin of patients. A homozygous splicing mutation of 1430 ＋ 2 T 〉 G was found in gene SPINK5 in one of the two families＇ proband. The prohand＇ s mother was a heterozygote of this mutation without phenotype of netherton syndrome. No mutation was found in the other family. Conclusion Decrease of LEKTI activity was found in the skin of patients with NS. The proband in one family had a homozygous splicing mutation of 1430 ＋2 T 〉 G in gene SPINKS.

关 键 词：Netherton综合征 SPINK5基因 LEKTI 点突变 

分 类 号：R596[医药卫生—内科学]