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目的分析963例婴儿及其父母G6PD酶活性情况,探讨婴儿G6PD缺乏症酶活性程度、性别、父母G6PD缺乏的遗传关系及G6PD/6PGD比值法检出率。方法G6PD筛查阳性婴儿4￣8月召回进行G6PD/6PGD比值法确诊复查,同时检测其父母G6PD酶活性综合分析。结果检出550例婴儿的G6PD酶阳性,检出率57.11%,其中男性检出率74.18%,女性检出率23.46%,酶活性轻度至中度缺乏率占98.55%,母亲缺乏婴儿缺乏率达82.30%,父母均缺乏婴儿缺乏率100%,男婴缺乏者其母G6PD缺乏检出率仅18.14%。结论白云区G6PD缺乏发生率约8.45%,为“广州型”G6PD酶活性轻度至中度缺乏者为多,父母G6PD缺乏者其婴儿缺乏发生率高,对酶活性正常的女性杂合子难以用G6PD/6PGD比值法检出。
Objective To analyze the activity of G6PD in 963 infants and their parents, and to investigate the genetic activity of G6PD deficiency in infancy and the genetic relationship between G6PD deficiency and gender, the detection rate of G6PD / 6PGD ratio. Methods The positive G6PD screening infant was recalled from August to August for the diagnosis of G6PD / 6PGD ratio, and the parents’ G6PD activity was tested. Results The positive rate of G6PD was detected in 550 infants. The detection rate was 57.11%. The detection rate was 74.18% for males, 23.46% for females, and 98.55% for mild to moderate enzyme activity. The maternal lack of infant deficiency rate Up to 82.30%. Both parents lack the rate of infant lacking 100%. The rate of G6PD deficiency in their male infants is only 18.14%. Conclusions The incidence of G6PD deficiency in Baiyun District is about 8.45%, which is more than that of “Guangzhou Type” G6PD enzyme. Mild parents lack of G6PD have high incidence of infant deficiency, and it is difficult to use for female heterozygotes with normal enzymatic activity G6PD / 6PGD ratio method was detected.