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目的探讨用定量荧光法检测新生儿筛查滤纸干血斑标本葡萄糖-6-磷酸脱氢酶G6PD活性。方法按新生儿筛查滤纸干血斑标本采集方法,采集出生48~72h新生儿足跟血,制成滤纸干血斑标本,于0~14d用定量荧光法检测G6PD活性,并观察采集后不同检测时间的G6PD活性变化。结果本组2172份干血斑标本24h内、0~7d、0~14d检测平均G6PD活性(U/gHb)分别为5.40±1.03,4.08±1.27和3.78±1.36。干血斑G6PD活性随检测时间的推移而下降,第72小时、第7天、第14天检测者比24h内检测者分别衰减了20%、32%及52.4%。结论用定量荧光法检测滤纸为干血斑G6PD活性提供了定量检测手段。干血斑G6PD活性随检测时间的推移而下降,在根据测值判断G6PD活性是否缺乏时须予注意。实施G6PD缺乏筛查时应加快标本送检速度,根据本地区发病率和滤纸干血斑标本情况设定切值,以获得适于本地区发病率的筛查阳性率。
Objective To investigate the G6PD activity of glucose-6-phosphate dehydrogenase (G6PD) in neonatal screening filter paper of dry blood spots by quantitative fluorescence method. Methods According to the method of collecting fresh blood samples from newborn screening filter paper, the heel blood of newborns from 48 to 72 hours after birth was collected to make dried blood spots samples of filter paper. The activity of G6PD was detected by quantitative fluorescence method from 0 to 14 days. The change of G6PD activity at the time of detection. Results The average G6PD activity (U / gHb) of 2172 dry blood spots in this group was 5.40 ± 1.03, 4.08 ± 1.27 and 3.78 ± 1.36 at 0 ~ 7d and 0 ~ 14d, respectively. The G6PD activity of dried blood spots decreased with the passage of time. At 72 hours, 7 days and 14 days, the activity of G6PD decreased by 20%, 32% and 52.4% respectively. Conclusion The method of quantitative fluorescence detection of filter paper for G6PD dry blood spot provides a means of quantitative detection. G6PD activity of dried blood spots decreased with the passage of time, and caution should be exercised when determining whether G6PD activity is deficient or not based on measurements. The implementation of G6PD screening should speed up the rate of specimen submission, according to the regional incidence of dry blood spots and filter specimens set the cut value to get the screening positive rate for the incidence in the region.