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本文用标准红细胞丙酮酸激酶活性测定和经标准化的荧光斑点筛选试验对广州地区新生儿丙酮酸激酶(以下简称PK)缺陷的发生率进行了测定。比较了这两种试验的结果。使用荧光筛选试验和酶活性测定研究1159例新生儿脐血标本,分别有26例(2.2％)及24例(2.1％)PK活性低于正常水平。上述结果显示,广州地区PK缺陷的发生率显著低于香港报告的3.4％的PK缺陷发生率(P<0.05)。本文的结果亦证明,假如要用荧光斑点试验取得最准确的结果,就必须要对这筛选法进行标准化。
Abstract：The incidence of pyruvate kinase deficiency in Cantonese infants was determined. Both the standard assay of erythrocyte pyruvate kinase enzyme activity and the fluorescent screening test(standardized)were used. The results of these two tests were compared, of 1 159 infant cord blood samples studied, 26 and 24 samples(of 2.2 and 2.1%) had abnormally low levels of pk activity, using the screening test and enzyme assay, respectively. These results indicate that the frequency of the defective pk gene in Guangzhou is significantly lower(p<.05)than the previously reported defective gene frequency of 3.4% in Hong kong. The results also demonstrate the critical importance of standardization of the screening testy if most aecurateestimates of gene frequeny are to be derived by using this test.
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引用信息:
[1]吴梓樑,余伟栋,陈顺存,等.广州地区新生儿丙酮酸激酶缺陷基因发生率的研究[J].广州医学院学报,1986(04):14-19.