干血纸片法用于广东人G6PD基因点突变筛查研究  

Glucose6phosphate dehydrogenase mutations among Cantonese revealed by polymerase chain reaction using dried blood spots

作　　者：唐东江[1,2] 马燮琴[1,2] 宋诚燕[1,2] 林本蘅 吴淑祯[1,2] 蒋思慧 萧广仁 

机构地区：[1]广州市妇婴医院新生儿筛查中心 [2]台湾台北荣民总医院医学研究部

出　　处：《中华血液学杂志》1998年第4期189-191,共3页Chinese Journal of Hematology

摘　　要：目的：对１６８例广东籍男婴葡萄糖－６－磷酸脱氢酶（Ｇ６ＰＤ）缺陷者进行Ｇ６ＰＤ基因突变型研究。方法：运用７对特异性引物，采用滤纸干血斑ＤＮＡ直接扩增法，结合限制性内切酶分析技术。结果：７２例患儿（４２．９％）为Ｇ６ＰＤ１３７６Ｇ→Ｔ，３５例（２０．８％）为Ｇ６ＰＤ１３８８Ｇ→Ａ，３０例（１７．９％）为Ｇ６ＰＤ９５Ａ→Ｇ，６例（３．６％）为Ｇ６ＰＤ３９２Ｇ→Ｔ，３例（１．８％）为Ｇ６ＰＤ１０２４Ｃ→Ｔ。尚有２２例未能定型。未发现Ｇ６ＰＤ４９３Ａ→Ｇ和４８７Ｇ→Ａ突变。结论：Ｇ６ＰＤ１３７６，１３８８，９５为广东人中常见的Ｇ６ＰＤ基因突变，与我国台湾的研究资料相类似。１６８例中未检出台湾人中的４９３Ａ→Ｇ和４８７Ｇ→Ａ突变。滤纸干血斑标本为遗传病流行病学研究提供了采血、保存、运输方便。Objective:To analyze G6PD gene mutation in 168 Cantonese G6PD deficient male infants. Methods:PCR products were amplified directly from dried blood spots on filter paper using 7 pairs of special primers followed by digestion with a restriction enzyme. Results: Of the 168 samples, 72(42.8%) were G6PD 1376 G→T mutation, 35 (20.8%) were G6PD 1388 G→A, 30(17.9%) were G6PD 95 AG, 6(3.6%) were G6PD 392 G→T, and 3(1.8%) were G6PD 1024 C→T. No G6PD 493 A→G and 487 G→A mutation were found, and 22(13.1%) were not defined. Conclusion: ① The three G6PD mutations at 1376, 1388 and 95 were common in Cantonese. ② Dried blood spots collected on filter paper provide an easy way of sample collection, storage and transport for the epidemiological study of inherited disease.

关 键 词：G6PD缺乏 基因突变 干血纸片法 聚合酶链反应 

分 类 号：R596[医药卫生—内科学] R591[医药卫生—临床医学]