中国人遗传性高铁血红蛋白血症患者中一个新的突变基因型的鉴定  

A novel mutation identified in a Chinese hereditary methemoglobinemia patient

作　　者：郑德柱[1] 兰风华[1] 黄梁浒[1] 谢飞[1] 吴玉水[1] 朱忠勇[1] 

机构地区：[1]南京军区福州总医院解放军医学检验中心,福建福州350025

出　　处：《医学研究生学报》2007年第8期830-832,共3页Journal of Medical Postgraduates

基　　金：南京军区"十一五"计划课题基金资助项目(批准号:06MA136)

摘　　要：目的:报道一例遗传性高铁血红蛋白血症患者还原型烟酰胺腺嘌呤二核苷酸-细胞色素b5还原酶(b5R)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,分析遗传性高铁血红蛋白血症患者b5R基因的cDNA全部编码序列;PCR结合限制性内切酶(PvuⅠ和AfaⅠ)酶切,分析患者和她的家庭成员b5R基因组DNA扩增片段。结果:两个b5R等位基因中,一个存在M176T(ATG→ACG)突变,另一个存在C203Y(TGC→TAC)突变,其中M176T(ATG→ACG)为新发现的b5R基因突变。结论:本研究鉴定的M176T/C203Y复合杂合子突变是该遗传性高铁血红蛋白血症患者的致病基础。Objective：To report the mutation in NADH-cytochrome b5 reductase gene obtained from a Chinese patient with hereditary methemoglobinemia. Methods：Coding regions of bSR cDNA from the patient and normal subjects were analyzed by direct sequencing of the RT-PCR products. The PCR amplified genomic DNA fragments of the b5R gene from the patient and her family were also analyzed by restrict enzyme Pvu I and Afa I. Results：A compound heterozygote M176T（ATG→ACG）/C203Y （TGC→TAC） was found in the b5R gene of the patient. Conclusion ： It is revealed for the first time that the compound heterozygote might cause hereditary methemoglobinemia type I.

关 键 词：高铁血红蛋白血症 细胞色素b5还原酶 突变 杂合子 

分 类 号：R556.7[医药卫生—血液循环系统疾病]