Tangent analysis and the occurrence of genetic mutations of glucose-6-phosphate dehydrogenase deficiency screening method for newborns in Jiangmen city" />
江门市新生儿葡萄糖-6-磷酸脱氢酶缺乏筛查方法的切值分析及基因突变发生情况
Tangent analysis and the occurrence of genetic mutations of glucose-6-phosphate dehydrogenase deficiency screening method for newborns in Jiangmen city
YANG Ying-song ZHONG Zhi-lai YANG Mei TAN Jie-liang LIU Ying-yan ZENG Qin-long LI Zhi-ming TANG Jia
Medical Genetics Center,Jiangmen Maternal and Child Health Hospital,Guangdong Province,Jiangmen 529000,China
Abstract：Objective To investigate the genetic mutations of glucose 6-phosphate dehydrogenase(G6PD)in newborns in Jiangmen city,and to explore the cut-off value of G6PD fluorescence quantitative screening in Jiangmen city.Methods From January 2018 to May 2020,113 665 cases of newborns with blood spots who were screened in the Neonatal Genetic Metabolic Disease Screening Center in Jiangmen City were selected as the study subjects for retrospective analysis,and G6PD detection and screening were performed by fluorescence quantitative method.A total of 889 cases of recalled G6PD screening positive newborns were selected as suspected G6PD deficiency(G6PDd)newborns for investigation,and their venous blood was collected for G6PD enzyme activity or hot spot gene mutation detection.The results of G6PD fluorescence quantitative screening in all newborns were counted,and the results of hot spot gene mutation detection and G6PD enzyme activity diagnosis in newborns suspected of G6PDd were counted.At the same time,889 newborns suspected of G6PDd and 2839 newborns initially screened with G6PD negative were followed up,ROC curve was used to analyze the cut-off value of G6PD fluorescence quantitative method.Results In Jiangmen city,the positive rates of male and female were 7.01% and 1.51%,respectively,and the overall positive rate of screening was 4.39%.Of 889 newborns suspected of G6PDd,222 newborns were tested for hot spot gene mutation detection,and the mutations were detected in 220 cases.Hemizygous mutation in 188 male infants,the detection rates of c.1388G>A,c.1376G>T,c.95A>G,c.871G>A,c.1024C>T,c.392G>T,c.1360C>T,c.1004C>A were high,accounted for 94.68%of male mutation sites detected.Enzyme activity was confirmed in 835 cases,and there were 801 confirmed positive cases.ROC curve analysis of G6PD fluorescence quantitative screening values showed that the maximum AUC values of male and female were 0.992 and 0.888,respectively,and the corresponding G6PD cut-off values were 2.98 and 2.97 U/g Hb,respectively.Conclusion The occurrence of neonatal G6PD gene mutation in Jiangmen is at a moderate level,in which c.1388G＞A,c.1376G＞T,c.95A＞G,c.871G＞A,c.1024C＞T,c.392G＞T,c.1360C＞T,c.1004C＞A are the main mutation sites.It is suggested that 3.0 U/g Hb should be used as the cut-off value for the fluorescence quantitative screening of G6PD in Jiangmen city.
杨应松； 钟志来； 杨梅； 谭杰亮； 刘颖妍； 曾钦龙； 李智明； 唐佳. 江门市新生儿葡萄糖-6-磷酸脱氢酶缺乏筛查方法的切值分析及基因突变发生情况[J]. 中国当代医药, 2021, 28(26): 159-163.
YANG Ying-song； ZHONG Zhi-lai； YANG Mei ；TAN Jie-liang； LIU Ying-yan； ZENG Qin-long； LI Zhi-ming； TANG Jia.
Tangent analysis and the occurrence of genetic mutations of glucose-6-phosphate dehydrogenase deficiency screening method for newborns in Jiangmen city
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