摘要目的 探讨应用Mass-array基因芯片技术检测葡萄糖-6-磷酸脱氢酶(G6PD)基因突变位点的价值,并对其进行质量评价.方法 收集2006至2013年在福建省妇幼保健院新生儿疾病筛查中心进行G6PD筛查的婴儿,根据化学筛查结果分成2组:G6PD缺乏症患儿和正常儿童,随机抽取患儿和正常对照儿童各300例.采用基因分析工具(Genotyping Tools)与Mass-array Design软件,利用中国人群已报道的G6PD基因33个突变位点芯片,应用Mass-array基因技术检测G6PD基因突变位点,并通过DNASanger测序法验证基因芯片检测结果的准确性.结果 在300例G6PD患儿中,共检出单纯型单点突变9种:1376G＞T、1388G＞A、95A＞G、1024C＞T、392G＞T、1360C＞T、487G＞A、517T＞C、1365-13T＞C;复合突变型7种:871G＞ A/1365-13T＞ C/1311C＞T、1004C＞ A/1311C＞ T/1365-13T＞C、1376G ＞T/1365-13T＞C/1311C＞T、1365-13T ＞C/1311C ＞T、1376G＞ T/1365-13T＞C、95A＞ G/1365-13T＞ C/1311C＞T、1388G＞ A/1365-13T＞C;300名正常对照儿童中未检测到G6PD基因突变.进一步所有样本的Sanger DNA测序结果与基因芯片检测结果完全一致.结论 采用Massarray基因芯片技术检测G6PD基因突变方法是一种准确、高效的G6PD基因突变筛查方法.

abstractsObjective To develop the Mass-array gene chip to detect glucose-6-phosphate dehydrogenase (G6PD) gene mutations,and to evaluate its quality.Methods Randomly choosing the children who perform neonatal screening in Neonatal Screening Center of Fujian Maternity and Children Health Hospital from 2006 to 2013.Children were divided into control group and G6PD patient group.Using Genotyping Tools from Sequenom company and the software of Mass-array Assay Design to design the PCR amplification primer of 33 G6PD gene mutations which were well-known in Chinese.Then depending on Mass-array gene chip technology to detect glucose-6-phosphate dehydrogenase gene mutations.DNA Sanger sequencing was used to verify the accuracy of the testing results of gene chip.Results In the 300 children with G6PD deficiency,we detected 9 kinds of simplex single point mutations:1376G ＞ T,1388G ＞ A,95A ＞ G,1024C ＞ T,392G ＞ T,1360C ＞ T,487G ＞ A,517T ＞ C,1365-13T ＞ C and 7 kinds of compound mutations:871G ＞A/1365-13T ＞ C/1311C ＞ T,1004C ＞ A/1311C ＞ T/1365-13T ＞ C,1376G ＞ T/ 1365-13T ＞ C/ 1311C＞T,1365-13T＞C/1311C ＞T,1376G＞T/1365-13T＞C,95A＞G/1365-13T ＞C/1311C ＞T,1388G ＞ A/1365-13T ＞ C.No G6PD gene mutation was detected in 300 normal children.The results of DNA Sanger sequencing were identical to that of gene chip.Conclusion Mass-array of G6PD gene is an effective,accurate and efficient way for G6PD gene mutation screening.