遗传性蛋白S缺陷症研究进展

Progress of research with congenital protein S deficiency

遗传性蛋白S(PS)缺陷症是一种常染色体显性遗传性疾病 ,在有先天性易栓症的家族中占 10 % [1,2 ] 。PS缺陷家族的杂合体有发生静脉血栓形成的危险 ,近年来 ,人们在分子生物学水平上对PS缺陷的病理机制、疾病的诊断及其相应的治疗措施方面的认识有了很大进展。本文将PS的功能、分布结构、PS基因、PS缺陷症的发病人群、临床症状、流行病学调查以及缺陷症的分型作一综述 ,并总结了目前PS突变数据库的突变类型及突变家系数量、分型特点等。最后介绍了目前实验室对遗传性PS缺陷症的表型诊断的实验室检查方法及基因研究手段。

Inherited protein S deficiency is an autosomal dominant trait affecting up to 10%of families with congenital thrombophilia. Since heterozygous subjects of PS to deficient families are at risk for venous thromboemblic disease.Recently,Great progress has achieved in the recognition of pathology mechanism diagnose and relative treatment of PS deficiency in molecule biological level. We summarize the function?structure?gene?population incidence?clinic symptom?epidemiology investigate and genotype of PS deficiency in the paper. And we also analysis the family amount?genotypes and phenotypes characteristicat of PS deficiency in gene mutation databank at present. Final we described lab diagnose method of phenotypes and genotypes of PS deficiency.