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血红蛋白分子病研究是医学遗传学的重要课题。人体每个红细胞含有约2亿8千万个血红蛋白分子,每个血红蛋白分子由4条肽链共574个氨基酸组成。分子中任何一个氨基酸发生变化都会产生异常血红蛋白,导致血红蛋白分子病。血红蛋白分子病是一种遗传疾病,据联合国卫生组织估计,全世界约有一亿人带有此病的遗传因子(基因),因此研究血红蛋白病具有重大的理论意义和临床价值,也要求采用分子水平的精密分析技术进行研究探索。上海市儿童医院医学遗传研究室科研人员,学习外国先进科学技术,结合自己实验室的特点,悉心钻研,埋头苦干,终于掌握了血红蛋白分子结构的分析技术,由此可以鉴定出病人的血红蛋白分子中单个氨基酸的异常,填补
Hemoglobin molecular disease is an important issue in medical genetics. The human body contains about 280 million hemoglobin molecules per erythrocyte, and each hemoglobin molecule consists of 574 amino acids in four peptide chains. Any change in the amino acid molecule will produce abnormal hemoglobin, resulting in hemoglobin molecule disease. Hemoglobin is a genetic disease. According to the WHO estimates, there are about 100 million people in the world who carry the disease gene (gene), so the study of hemoglobinopathy has great theoretical and clinical value, but also requires the use of molecules Level precision analysis technology research and exploration. Shanghai Children’s Hospital Medical Genetics Laboratory researchers, learning advanced foreign science and technology, combined with the characteristics of their own laboratories, careful study, hard work, finally mastered the analysis of the molecular structure of hemoglobin, which can identify the patient’s hemoglobin molecules In a single amino acid abnormalities, fill