NADH-细胞色素b5还原酶(简称b5R)是一种广泛分布于人体各组织细胞、具有重要生理功能的氧化还原酶类,其遗传缺陷将导致遗传性高铁血红蛋白血症。本项目历时15年,从分子生物学、免疫学和酶学三方面对b5R缺陷引起的遗传性高铁血红蛋白血症(简称HM)进行了系统研究。在分子生物学方面,本项目采用逆转录-聚合酶链反应(RT-PCR)、PCR产物克隆及序列测定、PCR产物的直接序列测定、限制性酶谱分析等技术和方法,在中国HM患者中发现了4种突变的b5R基因型:R57Q/R57Q、L72P/L72P、C203Y/C203Y和R57Q/C203Y,其中后3种为国际首报b5R基因突变 NADH-cytochrome b5 reductase (b5R) is a widely distributed in the human body cells, with important physiological functions of oxidoreductases, the genetic defects will lead to heme methemoglobinemia. The project lasted 15 years and systematically studied hereditary methemoglobinemia (HM) caused by b5R deficiency in molecular biology, immunology and enzymology. In molecular biology, the project uses reverse transcription-polymerase chain reaction (RT-PCR), PCR product cloning and sequencing, PCR products, direct sequencing, restriction enzyme analysis techniques and methods in China HM patients Four mutant b5R genotypes were found: R57Q / R57Q, L72P / L72P, C203Y / C203Y and R57Q / C203Y, of which the last three were the first international b5R gene mutations