葡萄糖-6-磷酸脱氢酶cDNA1311 C→T复合11内含子93 T→C突变  

Complex mutations of 1311 C→T in exon 11 and 93 T→C in intron 11 in G6PD gene

作　　者：于国龙[1] 蒋玮莹[1] 杜传书[1] 林群娣[1] 陈路明[1] 田秋红[1] 李舒刚 曾敬波 

机构地区：[1]中山大学中山医学院遗传学教研室,广州510080 [2]广东省兴宁市人民医院

出　　处：《中华血液学杂志》2004年第10期610-612,共3页Chinese Journal of Hematology

基　　金：广东省自然科学基金资助项目 ( 990 115 ) ;2 11重点项目基金资助项目 ( 98A 11)

摘　　要：目的　探讨葡萄糖 6 磷酸脱氢酶 (G6PD)基因cDNA1311C→T复合 11内含子 93T→C的突变与G6PD缺乏的关系。方法　运用硝基四氮唑蓝纸片法筛查G6PD患者 ,以定量法确诊 ,运用PCR SSCP筛查 11外显子异常的标本 ,以突变特异性扩增系统 (ARMS)法鉴定 1311C→T突变 ,DNA直接测序 1311突变标本的 11外显子和 11内含子。结果　在 12例 1311突变的标本中 ,在 11内含子的93位均发现有T→C突变。结论　cDNA1311C→T突变同时合并 11内含子的Objective To investigate the relationship between complex 1311 mutation of C→T in exon 11 and 93 T→C in intron 11 of G6PD gene and the G6PD deficiency. Methods Using NBT paper strip method to screen and quantitative NBT method to confirm G6PD deficiency. PCR-SSCP technique was used to find the abnormal exon 11 and the amplification refractory mutation system(ARMS) to identify 1311 mutation, and DNA sequencing to identify the complex mutation at 1311 in exon 11 and 93 in intron 11. Results Abnormal band in exon 11 was found in 12 cases. DNA sequencing showed that they were 1311 mutation together with 93 mutation. Conclusion This complex mutation may be the cause of reduced activity of G6PD enzyme.

关 键 词：突变 葡萄糖-6-磷酸脱氢酶 G6PD缺乏 标本 患者 筛查 DNA 内含子 外显子 基因 

分 类 号：R55[医药卫生—血液循环系统疾病]