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丙酮酸激酶(pyruvate kinase,PK)有4个同工酶:L、R、M_1、M_2。成熟红细胞以R型为主,由PKL基因编码。人类R型PK基因的启动子区域存在4个高度保守成份。R型PK表达调控主要在转录水平,与锌指家族成员作用有关。研究显示-270bp的上游区域是一个强启动子,位点控制区HS2及启动子上游3.7kb处一片段具有增强子作用。随着对R型PK的深入了解及分子生物学进展,为PK缺乏所致溶血性贫血的诊断及基因治疗奠定了基础。
Pyruvate kinase (PK) has 4 isozymes: L, R, M_1, M_2. R-based mature erythrocytes, encoded by the PKL gene. There are 4 highly conserved components in the promoter region of human R-type PK gene. R type PK expression regulation mainly in the transcription level, and zinc finger family members. The study shows that the upstream region of -270 bp is a strong promoter, HS2 of the site control site and a fragment of 3.7 kb upstream of the promoter have an enhancer effect. With the in-depth understanding of R-PK and the progress of molecular biology, it laid the foundation for the diagnosis and gene therapy of hemolytic anemia caused by PK deficiency.