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 NADHcytochrome 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 RTPCR 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.
出处
《中华血液学杂志》
CAS
CSCD
北大核心
1998年第4期195-197,共3页
Chinese Journal of Hematology
基金
全军"八五"重点课题
关键词
RCM
血红蛋白血症
细胞色素B5
还原酶
基因突变
Hereditary methemoglobinemia
Cytochrome b5 reductase
Polymerase chain reaction
Gene mutation