两速率法在G6PD缺陷筛查中的应用评价

The evaluation of two rate methods used in the G6PD deficiency screening

目的探讨速率A法与速率B法在G6PD缺陷筛查中的应用价值。方法分男性与女性两组,其中男性656例,女性1921例。所有样本均用速率A与速率B法对G6PD活性进行检测。统计各自的检出率,然后计算出本地区G6PD缺乏遗传致病基因频率、女性杂合子频率估计值和女性杂合子实际检出率。结果两种筛查方法对男性半合子检出率均为6.71%,但在女性杂合子检测上,速率B法检出率(7.81%)明显高于速率A法(3.02%),差异有统计学意义(P<0.01)。本地区G6PD缺乏症遗传致病基因频率和女性杂合子频率估计值分别为0.06707和0.12514;速率A法对女性杂合子实际检出率为24.1%而速率B法为62.4%。结论在G6PD缺陷筛查中,速率B法不仅操作简便快捷,而且能更有效地检出杂合子患者。

Objective：To explore the value of the rate A and rate B methods used in the G6PD deficiency screening.Methods： All samples were divided into male and female two groups,including 656 cases of male and 1921 cases of female.G6PD activity of all samples were detected by rate A and rate B methods.Respective detection rate was calculated,after that the region genetic causative gene frequency of G6PD deficiency,the female heterozygote frequency estimate and female heterozygote actual detection rate were calculated.Results： Two screening methods for the male hemizygous detection rates were 6.71%,but in the female heterozygote detection rate,the rate B method（7.81%） was significantly higher than the rate A Method（3.02%）,the difference was statistically significant（P0.01）.The region genetic causative gene frequency of G6PD deficiency and the female heterozygote frequency estimate were 0.06707 and 0.12514.The female heterozygote actual detection rate of rate A method was 24.1% while the rate B method was 62.4%.Conclusion： In the G6PD deficiency screening,rate B method is not only easier and faster to operate,but also can detect more heterozygous patients.