论文部分内容阅读
目的探索中国东北地区的葡萄糖-6-磷酸脱氧酶(G6PD)变异情况。方法采用Fujii方法筛选G6PD缺陷个体,从滤纸片上洗脱DNA,PCR扩增各外显子,通过DNA测序检测突变点。结果在中国东北地区发现1例D6PD缺陷患者,其基因突变型为1339G>A,为G6PD Santiago de Cuba。在东北地区其他血液样品中未发现G6PD缺陷个体(0/414)。结论在中国东北地区发现1例G6PD Santiago de Cuba突变个体,这是中国人群中首例Ⅰ类G6PD缺陷(极重度G6PD缺陷)患者。
Objective To explore the variation of glucose-6-phosphate dehydrogenase (G6PD) in northeastern China. Methods Fujii method was used to screen G6PD-deficient individuals. DNA was eluted from filter paper, and exons were amplified by PCR. Mutations were detected by DNA sequencing. Results One case of D6PD deficiency was found in northeastern China. The gene mutation type was 1339G> A and was G6PD Santiago de Cuba. No other G6PD-deficient individuals were found in other blood samples in Northeast China (0/414). Conclusion One case of G6PD Santiago de Cuba mutation was found in the northeast of China. This is the first case of type I G6PD deficiency (very severe G6PD deficiency) in Chinese population.