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目的研究一个遗传性蛋白S(PS)缺陷症家系的表型诊断及基因特征。方法PS活性(PS:A)用发色底物法测定,PS抗原(PS:Ag)用ELISA方法测定。用PCR扩增PS基因各个外显子及侧翼序列,用直接测序法检测突变点。结果先证者的PS:Ag和PS:A分别为8·3mg/L和29%,均低于正常。基因检测发现在14号外显子Gln522(CAG)→Stop(TAG)。结论本家系PS基因在14号外显子Gln522(CAG)→Stop(TAG),为国内首次报道的一个新的基因突变。
Objective To investigate the phenotypic diagnosis and genetic characteristics of a pedigree with inherited protein S (PS) deficiency. Methods PS activity (PS: A) was determined by chromogenic substrate method, PS antigen (PS: Ag) by ELISA method. All exons and flanking sequences of PS gene were amplified by PCR, and the mutation sites were detected by direct sequencing. Results of the proband’s PS: Ag and PS: A were 8.3 mg / L and 29%, respectively, were lower than normal. Gene test found in exon 14 Gln522 (CAG) → Stop (TAG). Conclusion The PS gene of this family is the first reported mutation in Gln522 (CAG) → Stop (TAG) in China.