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目的:对一个遗传性Ⅰ型蛋白C(PC)缺陷症家系进行基因突变的检测。方法:先证者的蛋白C活性(PC:A)和抗原(PC:Ag)分别为26%和1.43mg/dl。用PCR法对先证者PC基因的9个外显子及其侧翼、内含子序列进行扩增,PCR产物纯化后直接测序,检测其基因突变。突变位点经限制性内切酶分析证实。结果:先证者表现为PC基因外显子3区杂合错义突变C5498T,引起Argl5→Trp。结论:该突变导致遗传性Ⅰ型PC缺陷症,为国内首次报道。
OBJECTIVE: To detect the gene mutation in a pedigree with inherited type I protein C (PC) deficiency. Methods: The proband’s protein C activity (PC: A) and antigen (PC: Ag) were 26% and 1.43 mg / dl, respectively. Nine exons and their flanking and intron sequences of PC gene of proband were amplified by PCR. The PCR products were purified and directly sequenced to detect the gene mutation. Mutations were confirmed by restriction enzyme analysis. Results: The proband showed heterozygous missense mutation C5498T in exon 3 of PC gene, which caused Argl5 → Trp. Conclusion: This mutation leads to genetic type Ⅰ PC deficiency, which is the first report in China.