title: [Gene promoter methylation in glucose-6-phosphate dehydrogenase deﬁciency].
abstract: OBJECTIVE
  To investigate the features of methylation in the promoter region of glucose-6-phosphate dehydrogenase (G6PD) gene and the association between gene promoter methylation and G6PD deﬁciency.
  
  
  METHODS
  Fluorescent quantitative PCR was used to measure the mRNA expression of G6PD in 130 children with G6PD deficiency. Sixty-five children without G6PD deficiency served as the control group. The methylation-sensitive high-resolution melting curve analysis and bisulfite PCR sequencing were used to analyze gene promoter methylation in 22 children with G6PD deﬁciency and low G6PD mRNA expression. The G6PD gene promoter methylation was analyzed in 44 girls with normal G6PD mRNA expression (7 from G6PD deficiency group and 37 from control group).
  
  
  RESULTS
  Twenty-two (16.9%) children with G6PD deficiency had relatively low mRNA expression of G6PD; among whom, 16 boys showed no methylation, and 6 girls showed partial methylation. Among the 44 girls with normal G6PD mRNA expression, 40 showed partial methylation, and 4 showed no methylation (1 case in the G6PD group and 3 cases in the control group).
  
  
  CONCLUSIONS
  Gene promoter methylation is not associated with G6PD deficiency in boys. Girls have partial methylation or no methylation in the G6PD gene, suggesting that the methylation may be related to G6PD deficiency in girls.
authors.affiliation: Zhuhai Campus of Zunyi Medical University, Zhuhai, Guangdong 519041, China. 13510333196@139.com.
authors.forename: Dan-Dan
authors.initials: DD
authors.lastname: Xu
authors.forename: Fei-Qiu
authors.initials: FQ
authors.lastname: Wen
authors.forename: Rong-Yu
authors.initials: RY
authors.lastname: Lv
authors.forename: Min
authors.initials: M
authors.lastname: Zhang
authors.forename: Yun-Sheng
authors.initials: YS
authors.lastname: Chen
authors.forename: Xiao-Wen
authors.initials: XW
authors.lastname: Chen
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D019175:DNA Methylation; D005260:Female; D005954:Glucosephosphate Dehydrogenase / Q000235:genetics; D005955:Glucosephosphate Dehydrogenase Deficiency / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D011401:Promoter Regions, Genetic; D012333:RNA, Messenger / Q000032:analysis; D012727:Sex Characteristics
chemical_list: D012333:RNA, Messenger; D005954:Glucosephosphate Dehydrogenase