摘要
本文采用荧光斑点试验检测滤纸干血斑标本的G6PD活性 ,对湛江市 315 0 0名新生儿进行G6PD缺陷症筛查 ,阳性者复查荧光斑点试验及NBT比值法G6PD活性 ,结合其母和或父活性结果 ,按诊断标准确诊。 (1)湛江市G6PD缺陷症发生率为 4 6 % ,男性 4 77% ,女性 4 6 %。 (2 )男性大多数 (72 % )为重度缺陷 ,少部分 (2 8% )为中间缺乏值 ;女性大多数(87 4 % )为中间缺乏值 ,少部分 (12 6 % )为重度缺陷。 (3)荧光斑点试验与比值法结果符合率较高 ,二者结合是筛查确诊G6PD缺陷症的最佳组合。 (4)缺陷男婴母亲的结果表明女性杂合子大部分为中间值 ,35 %为正常值 ,后者用G6PD测活方法难以发现 ,仅靠产前筛查易漏诊 ,有必要进行新生儿筛查。 (5 )湛江市G6PD缺陷症的基因频率为 0 0 4 7,发生率较高 ,对筛查确诊者发给携带卡以避开诱因 ,预防急性溶血的发生。因受筛查时间限制 。
In this article we report the G6PD deficiency screening test results of 315 000 cases of babies delivered in 30 hospitals of Zhanjiang from 1997.8 to 2000.3.Fluorescence spot test was applied as the screening test to detect G6PD deficiency by a blood specimen dried on filter paper.Results:1.The incidence of G6PD deficiency in Zhanjiang is 4 6%,the detection rate of male is 4 7% and that of female 4 6%. 2.Most of the male patients(72%,635/882)are markedly(complete) G6PD deficiency,the others(28%,)belong to borderline;while most of the female patients(87 4%,)belong to borderline and the others(12 6%)markedly deficiency.3.Results of spot fluorescence test with that of G6PD/6PGD ratio quantitative test are mostly same.4.The results of mother of male with G6PD deficiency show that heterozygote is mostly borderline.35% is normal,the later is difficult to check out by measuring G6PD activity.The screening of G6PD deficiency only before delivery may lead to some heterozygote's diagnosis was left out.So it's necessary for neonate to screen G6PD.5.The gene frequency,estimated from males after excluding referred and related cases,was 0 047 for Zhanjiang.The influence of G6PD deficiency in Zhanjiang is higher than that in other area.
出处
《中国优生与遗传杂志》
2002年第3期86-87,78,共3页
Chinese Journal of Birth Health & Heredity
