摘要
蛋白S活性降低是静脉血栓栓塞的高危因素之一。遗传性蛋白S缺乏症是由PROS1基因突变引起的常染色体显性遗传病。本文报道1例PROS1基因突变的女性患者,测序发现在PROS1基因第3外显子中c.292 G>T。谱系分析显示该突变可能源自于患者的母亲。经查询PROS1基因突变数据库及文献检索,证实这个突变为国际首次报道。
Reduced protein S activity is one of the high-risk factors for venous thromboembolism.Hereditary protein S deficiency is an autosomal dominant disorder caused by mutations in the PROS1 gene.We reported a female patient with a mutation of c.292 G>T in exon 3 of the PROS1 gene,which was identified by sequencing.The genealogical analysis revealed that the mutation probably originated from the patient’s mother.After searching against the PROS1 gene mutation database and the relevant literature,we confirmed that this mutation was reported for the first time internationally.
作者
魏欣雨
王娟
谭榜云
李子坚
WEI Xinyu;WANG Juan;TAN Bangyun;LI Zijian(First Clinical Medical College of Lanzhou University,Lanzhou 730000,China;Department of Laboratory,The First Hospital of Lanzhou University,Lanzhou 730000,China;Department of Hematology,The First Hospital of Lanzhou University,Lanzhou 730000,China)
出处
《中国医学科学院学报》
CAS
CSCD
北大核心
2023年第5期863-866,共4页
Acta Academiae Medicinae Sinicae
