先证者
错义突变
外显子
系谱图
遗传学
突变
显色的
分子生物学
基因
生物
医学
化学
色谱法
作者
Xuanyu Chen,Ming Zou,Chunxing Lu,Ruyi Zhou,Shuyue Lou,Yujia Wang,Hongxiang Ding,Zhao Han,Beilei Hu
标识
DOI:10.3389/fgene.2023.1132654
摘要
Background and aims: Dysplasminogenemia is a rare heritable disease caused by plasminogen (PLG) gene defects resulting in hypercoagulability. In this report we describe three notable cases of cerebral infarction (CI) complicated with dysplasminogenemia in young patients. Methods: Coagulation indices were examined on STAGO STA-R-MAX analyzer. PLG: A was analyzed using a chromogenic substrate-based approach using a chromogenic substrate method. All nineteen exons of PLG gene and their 5′and 3′flanking regions were amplified by Polymerase chain reaction (PCR). Suspected mutation was confirmed by reverse sequencing. Results: PLG activity (PLG:A) in proband 1 and 3 of his tested family members, proband 2 and 2 of his tested family members, and proband 3 and her father were all reduced to roughly 50% of normal levels. Sequencing led to the identification of a heterozygous c.1858G>A missense mutation in exon 15 of the PLG gene in these three patients and affected family members. Conclusion: We conclude that the observed reduction in PLG:A was the result of this p .Ala620Thr missense mutation in the PLG gene. The CI incidence in these probands may be attributable to the inhibition of normal fibrinolytic activity as a consequence of this heterozygous mutation.
科研通智能强力驱动
Strongly Powered by AbleSci AI