菏泽地区新生儿G6PD缺乏症基因突变的检测

DETECTION OF GENE MUTATION IN NEONATAL GLUCOSE-6-PHOSPHATE DEHYDROGENASE DEFICIENCY IN HEZE,CHINA

目的探究菏泽地区新生儿葡萄糖-6-磷酸脱氢酶(G6PD)缺乏症患病率特点及其基因突变的特点。方法应用GSP全自动荧光免疫分析仪,对2021年1—12月在菏泽地区出生的新生儿G6PD活性进行筛查。使用天根生物DP334(离心柱型)试剂盒对确诊病儿的干血斑标本提取基因组DNA,采用PCR产物直接测序技术进行G6PD基因全部外显子测序,分析菏泽地区新生儿G6PD缺乏症基因突变类型与特点。结果菏泽地区77141例新生儿中检测出G6PD缺乏症确诊病儿54例,患病率为0.07%;54例病儿的G6PD基因全部外显子突变共检出13种突变类型,基因突变检出率为100%。首次在中国人群中发现1个G6PD基因内含子变异:G6PD c.486-7C>G;其余12种是已有报道的中国人群G6PD突变类型。其中男性半合子13型,女性杂合子4型。81.48%的G6PD突变位于12、6、9、2号外显子上,其中c.1388G>A、c.487G>A、c.1376G>T、c.95A>G、c.1024C>T占77.78%,菏泽地区新生儿G6PD缺乏症的基因突变热点依次为:c.1388G>A(29.63%)、c.487G>A(22.22%)、c.1376G>T(11.11%)。结论菏泽地区新生儿G6PD缺乏症患病率和基因突变的类型有其地域特点。

Objective To investigate the prevalence rate and gene mutations of glucose-6-phosphate dehydrogenase(G6PD)deficiency in neonates in Heze,China.Methods GSP automatic fluorescence immunoassay system was used for the screening of G6PD activity in the neonates born in Heze from January to December,2021.Tiangen Biological DP334(centrifugal column)kit was used to extract genomic DNA from the dried blood spot samples from the children with a confirmed diagnosis,and the direct PCR product sequencing technique was used for the sequencing of all exons of the G6PD gene to investigate the types and characteristics of gene mutation in G6PD deficiency in Heze.Results Among the 77141 neonates in Heze,54 were diagnosed with G6PD deficiency,with a prevalence rate of 0.07%,and 13 mutation types were detected in all exon mutations of the G6PD gene,with a detection rate of 100%.One intron variation of the G6PD gene,G6PD c.486-7C>G,was found for the first time in the Chinese population,and the other 12 mutations of the G6PD gene had been reported in the Chinese population.Among these mutations,there were 13 hemizygous mutations in males and 4 heterozygous mutations in females.The analysis showed that 81.48%of G6PD mutations were located in exons 12,6,9 and 2,among which c.1388G>A,c.487G>A,c.1376G>T,c.95A>G,and c.1024C>T accounted for 77.78%.The hot spots of mutation in neonates with G6PD deficiency in Heze were c.1388G>A(29.63%),c.487G>A(22.22%),and c.1376G>T(11.11%).Conclusion The prevalence rate and gene mutation types of neonatal G6PD deficiency in Heze have their own regional characteristics.