NADH-细胞色素b5还原酶基因Arg57Gln/Cys203Tyr复合杂合子鉴定  

Identification of a compound heterozygote Arg57 Gln/Cys203Tyr in NADH-cytochrome b5 reductase gene

作　　者：吴玉水[1] 王瑶[1] 兰风华[1] 唐玉钗[1] 朱忠勇[1] 

机构地区：[1]南京军区福州总医院全军医学检验中心实验科,福建福州350025

出　　处：《第四军医大学学报》2000年第3期300-303,共4页Journal of the Fourth Military Medical University

基　　金：解放军总后勤部卫生部重点课题基金资助!(159-C10)

摘　　要：目的　调查中国人遗传性高铁血红蛋白血症 (RCM)患者 NADH-细胞色素 b5还原酶 (b5 R)基因突变情况 .方法　采用逆转录 -聚合酶链反应产物直接测序法 ,分析 RCM患者 b5 R基因的 c DNA全部编码序列 ;PCR结合限制性内切酶Msp I和 Rsa I酶切分析患者及其母亲的 b5 R基因组 DNA扩增片段 .结果　患者的 b5 R基因存在 Arg5 7Gln(CGG→CAG)和 Cys2 0 3Tyr(TGC→ TAC)复合杂合型突变 ;突变的等位基因位于不同染色体上 ,前者来源于母亲 ,后者来源于父亲 .结论　在国内外首次发现 I型 RCM患者的 b5AIM To elucidate the mutation in NADH cytochrome b5 reductase gene obtained from a Chinese patient with hereditary methemoglobinemia. METHODS Coding regions of b5R cDNA from the patient and normal subjects were analyzed by direct sequencing of the RT PCR products. The PCR amplified genomic DNA fragments of b5R gene from the patient and his mother were also analyzed by restriction enzyme Msp I and Rsa I. RESULTS A compound heterozygote Arg57Gln (CGG→CAG)/Cys203Tyr (TGC→TAC) was found in b5R gene from the patient. CGG→CAG mutant allele occurred in the chromosome originated from his mother's, while TGC→TAC originated from his father's. CONCLUSION It is revealed for the first time that compound heterozygote can clinically cause hereditary methemoglobinemia type I.

关 键 词：高铁血红蛋白血 RCM NADH 细胞色素B5 还原酶 

分 类 号：R556.7[医药卫生—血液循环系统疾病]