Serum CK isoenzyme - Gene analysis of hyperCK-BB patient -

肌酸激酶(CK)在肌肉收缩过程中起着重要的能量供应作用。CK在细胞质中有CK-MM、CK-MB和CK-BB三种同工酶，在线粒体中有一种同工酶MCK。CK-MB在临床实验室被分析为心脏损伤的指标，CK-BB被分析为脑损伤或腺癌的指标。15岁男童CK-BB异常增高占37%，其姐姐CK-BB异常增高占47%。他们没有心脏损伤或脑损伤，也没有癌症。对他们的血液进行了基因分析，没有发现异常基因。我们进行了筛查试验，以检测异常高水平的CK.BB和/或CK.B活性。免疫抑制法检测CK-B活性。用薄层凝胶渗滤法测定CK的相对分子质量，并测定活化能以区分异常的CK和CK连接的免疫球蛋白或MCK。我们检测了3015例患者血清中CK-B活性。287例患者有CkB/T-CK异常升高，>0.1%。根据他们的主诉和其他临床检查，发现心脏损伤231例，甲状腺疾病15例，脑损伤15例，恶性肿瘤9例，婴儿9例，12例无其他疾病或损害。未发现基因分析所需的CK-B异常。

Creatine kinase (CK) plays an important role in energy supply in muscle contraction. CK has three isoenzymes, CK-MM, CK-MB, and CK-BB in cytoplasm, and one isoenzyme, mCK in mitochondria. CK-MB is analyzed in clinical laboratory as an indicator for cardiac injury, and CK-BB is analyzed as an indicator for brain damage or adenocarcinoma. Abnormal high level of CK-BB, 37%, was found in 15-year boy, and his elder sister had similar high level of CK-BB, 47%. They had no cardiac injury or brain damage and carcinoma. Gene analysis of their blood was performed and no abnormal gene was detected. We performed screening tests for detecting an abnormal high level of CK.BB and/or CK.B activity. CK-B activity was measured by immunoinhibition method. Molecular weight of CK was measured by thin-layer gel-filtration method and activation energy was measured for distinguished abnormal CK from CK-linked immunoglobulin or mCK. We measured CK-B activity in 3,015 patients serum. Two-hundred eighty seven patients had abnormal high level of CKB/T-CK, above 0.1. According to their chief complaints and other clinical tests reveled 231 patients of cardiac injury, 15 of thyroid diseases, 15 of brain damage, 9 of malignant tumor, 9 of infant, and 12 patients had no other diseases or damage. We could not find out any abnormal CK-B needed for gene analysis.