中国人遗传性高铁血红蛋白血症NADH-细胞色素b5还原酶基因L72P突变  

Leu 72 Pro mutation in the NADHcytochrome b5 reductase gene found in a Chinese hereditary methemoglobinemia patient

作　　者：吴玉水[1,2] 黄长晖[1,2] 朱忠勇[1,2] 王瑶 唐玉钗[1,2] 郑培蒸 

机构地区：[1]南京军区福州总医院医学检验中心 [2]第二军医大学分子遗传学开放实验室

出　　处：《中华血液学杂志》1998年第4期195-197,共3页Chinese Journal of Hematology

基　　金：全军"八五"重点课题

摘　　要：目的：鉴定导致中国人遗传性高铁血红蛋白血症（ＲＣＭ）的ＮＡＤＨ－细胞色素ｂ５还原酶（ｂ５Ｒ）基因突变类型，探讨ＲＣＭ发病的分子基础。方法：逆转录－聚合酶链反应产物直接测序和ｃＤＮＡ克隆测序分析先证者的ｂ５Ｒ编码基因；限制性酶切分析其基因组ＤＮＡ。结果：发现一例ＲＣＭ患者ｂ５Ｒ基因第７２密码子存在新的错义突变（ＣＴＣ→ＣＣＣ）。结论：该突变导致ｂ５Ｒ蛋白第７２位亮氨酸被脯氨酸替换（Ｌ７２Ｐ）是该先证者致病的分子基础；进一步证实Ⅰ型ＲＣＭ患者的ｂ５Ｒ基因突变多发生在近５′端部分。Objective: To characterize the mutation in NADHcytochrome b5 reductase gene in a Chinese hereditary methemoglobinemia patient, and elucidate the molecular basis of the disease. Methods: b5R gene from a propositus was analyzed by sequencing the RTPCR products as well as cDNA clones; and the results were further confirmed by restriction enzyme analysis of the genomic DNA fragments. Results: A novel mutation was found at codon 72 of b5R gene from the propositus. Conclusion: Replacement of Leu with Pro at codon 72 of b5R gene is the molecular basis of the propositus; and the mutant allele located in 5′ part of b5R gene mainly cause hereditary methemoglobinemia type I. 

关 键 词：RCM 血红蛋白血症 细胞色素B5 还原酶 基因突变 

分 类 号：R556.7[医药卫生—血液循环系统疾病]