摘要
目的研究新生儿脐带血的葡萄糖-6-磷酸脱氢酶男性缺乏率和酶活性测定法在女性杂合子中的检出率。方法全自动生化分析仪测定G6PD酶活性,根据测定的结果,计算出新生儿脐带血的基因频率和女性杂合子的检出率。结果新生儿脐带血的G6PD缺乏症在本地区发病率为3.07%,男性的G6PD缺乏率是4.04%,酶活性测定法在女性杂合子中的检出率是21.95%。结论采用酶活性检测法在女性杂合子检出率中效果不理想,这有利于在遗传咨询和新生儿出生缺陷等方面提供更全面的信息。
Objective To study the rate of glucose -6 - phosphate dehydrogenase (G6PD) deficiency in males in neonatal cord blood and the detection rate of heterozygote by enzyme activity assay in females. Methods Automatic biochemical analyzer was used to determine G6PD enzyme activity, and the results were used for calculate gene frequency in neonatal cord blood and detection rate of heterozygote in females . Results The rate of G6PD deficiency in males was 4.04% in neonatal cord blood group and the detection rate of female heterozygotes was 21.95%. Conclusions The prevalence of G6PD deficiency in neonatal cord blood is 3.07% and the detection rate of female heterozygotes by enzyme activity assay is not satisfactory, which is conducive to providing more comprehensive information on genetic counseling and birth defects.
出处
《社区医学杂志》
2014年第6期39-40,共2页
Journal Of Community Medicine
关键词
葡萄糖-6-磷酸脱氢酶
基因频率
女性杂合子
产前诊断
glucose - 6 - phosphate dehydrogenase
gene frequency
female heterozygote
prenatal diagnosis