【摘要】 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。更多还原

【Abstract】 Objective To investigate the variants of glucose-6-phosphate dehydrogenase(G6PD)in the population of Northeastern China.Methods Fujii’s method was used to screen G6PD deficient individuals.DNA was eluted from the filter paper.Each exon was amplified by polymerase chain reaction,and the mutation was identified by DNA sequencing.Results A G6PD deficient patient,with a replacement of G to A at nucleotide of 1 339,was found in Northeastern China.This replacement was named as G6PD Santiago de Cuba.Other blood samples from the population of Northeastern China were examined,but no case of G6PD deficiency was found(0/414).Conclusion The patient with a mutation of G6PD Santiago de Cuba found in this study is the first case of class Ⅰ of G6PD deficiency in Chinese population.更多还原