1例新的遗传性高铁血红蛋白血症复合杂合子基因型的鉴定  

Identification of a novel compound heterozygous genotype of hereditary methemoglobinemia type I

作　　者：程鲁京[1] 郑德柱[1] 吴玉水[1] 朱忠勇[1] 兰风华[1] 

机构地区：[1]南京军区福州总医院全军检验医学中心,福州350025

出　　处：《临床检验杂志》2005年第1期22-24,共3页Chinese Journal of Clinical Laboratory Science

摘　　要：目的　从分子水平对 1例遗传性高铁血红蛋白血症患者进行确诊。方法　通过RT PCR产物直接测序 ,分析患者和正常对照b5R基因的cDNA编码序列。用PCR 限制性内切酶分析患者、其父母和正常人基因组DNA。结果　患者的一个b5R等位基因第 72位密码子 (位于外显子 3)发生了CTC→CCC突变 ,原来的亮氨酸被脯氨酸替换。患者另一个b5R等位基因第 2 0 3位密码子 (位于外显子 7)发生了TGC→TAC突变 ,原先的半胱氨酸被酪氨酸取代。结论　在中国患者确定了一个新的遗传性高铁血红蛋白血症基因型 ,即L72P/C2 0 3Y。Objective To identify the mutation in NADH-cytochrome b5 reductase (b5R) gene in a patient with hereditary methemoglobinemia type I.Methods The cDNA of b5R gene coding sequence from the patient was analyzed by directly sequencing the RT-PCR product and the result was further confirmed by restriction endonuclease digestion of the genomic DNA fragments from the patient, his parents and a normal control.Results A CTC →CCC mutation was found in one b5R allele of the patient,at codon 72 in exon 3,causing the replacement of Leu by Pro.In another b5R allele of the patient,at codon 203 (TGC→TAC) in exon 7,leading to the substitution of Tyr for Cys.Conclusion A novel genotype,L72P/C203Y,was determined in a Chinese patient with hereditary methemoglobinemia type I.

关 键 词：患者 遗传性高铁血红蛋白血症 杂合子 等位基因 基因型 突变 外显子 密码子 DNA 限制性内切酶 

分 类 号：R556.7[医药卫生—血液循环系统疾病] R596[医药卫生—内科学]