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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 study the mutation and product activity of SPINK5 gene in two Netherton syndrome pedigrees. Methods Immunohistochemistry was used to detect the activity of LEKTI encoded by SPINK5 gene in the epidermis. Polymerase chain reaction-DNA direct sequencing was used to detect the gene mutation. Results All patients had LEKTI activity decreased. A pedigree proband has a homozygous mutation of the SPINK5 gene 1430 + 2 T> G. The mother is heterozygous for this mutation and has a normal phenotype. No mutation was found in another family. CONCLUSIONS: LEKTI activity is reduced in both pedigree patients. Sheep mutations of the SPINK5 gene at 1430 + 2 T> G homozygotes were observed in the first family members.