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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 b5 R基因存在复合杂合型突变
Objective To investigate the mutation of NADH-cytochrome b5 reductase (b5R) gene in Chinese patients with hereditary methemoglobinemia (RCM) .Methods Reverse transcription-polymerase chain reaction (PCR) PCR and restriction endonucleases Msp I and Rsa I were used to analyze the amplified fragment of b5 R genomic DNA of patients and their mothers.RESULTS There were Arg5 7Gln (CGG → CAG) and Cys2 0 3Tyr (TGC → TAC) hybrid heterozygous mutations; the alleles of the mutations are located on different chromosomes, the former from the mother and the latter from the father.Conclusion The b5R gene was first found in patients with type I RCM Heterozygous mutation