摘要
蚕豆病是由于红细胞葡萄糖-6-磷酸脱氢酶缺乏引起的先天性溶血性贫血。我们检测了10例病人及其中5例患者的双亲，结果为6例病人为cDNA1388突变，3例病人为cDNA1376突变，未定型1例。5例患者的双亲均为携带者，其中3例患者的母亲为cDNA1388突变的携带者，2例患者的母亲为1376突变的携带者。说明cDNA1388及1376突变是最常见的突变类型。
Favism is a hemolytic anemia due to glucose- 6 phosphate dehydrogenase (G- 6-PD) deficiency. We detected gene mufation in 10 patients with favism and their relatives (five patients parents). six of the 10 patieats were found to have G to A mutation at nucleotide 1388, three G to T mutation at nucleotide 1376, and one could not be defined. All five mothers were found to be carriers among whom three were the mothers of the patients with G to A mutation at nucleotide 1388, and two were the mothers of the patients with G to T mutation at nucleotide 1376. It is suggested that 1388 mutation and 1376 mutation are the most common types of mutation.
出处
《中国小儿血液》
1998年第2期68-69,共2页
China Child Blood
