Observational studyMedicine2018
Mutation of glucose-6-phosphate dehydrogenase deficiency in Chinese Han children in eastern Fujian.
Observational study in Medicine, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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Who cites it
21 citing papers in PubMed, 26 citations in OpenAlex.
- Performance evaluation of an automated method for accurate identification of glucose-6-phosphate dehydrogenase deficiency on the BS-2800M analyzer.Malaria journal · 2026Article
- Association between G6PD gene variants and adverse pregnancy outcomes.BMC pregnancy and childbirth · 2026Article
- Establishment of reference interval (RI) for G6PD/6PGD ratio in adults from Yangjiang, China.Annals of hematology · 2025Article
- Application of family whole-exome sequencing for prenatal diagnosis-an analysis of 357 cases.Frontiers in medicine · 2025Article
- Functional analysis of G6PD variants associated with low G6PD activity in the All of Us Research Program.Genetics · 2024Article
- Risk of diabetes mellitus based on the interactive association between G6PD rs72554664 polymorphism and sex in Taiwan Biobank individuals.Scientific reports · 2024Article
- Functional Analysis of G6PD Variants Associated With Low G6PD Activity in the All of Us Research Program.medRxiv : the preprint server for health sciences · 2024Article
- Genetic analysis and molecular basis of G6PD deficiency among malaria patients in Thailand: implications for safe use of 8-aminoquinolines.Malaria journal · 2024Article
- Newborn screening for G6PD deficiency in HeFei, FuYang and AnQing, China: Prevalence, cut-off value, variant spectrum.Journal of medical biochemistry · 2024Article
- Screening and the analysis of genotypic and phenotypic characterization of glucose-6-phosphate dehydrogenase (G6PD) deficiency in Fujian province, China.Frontiers in genetics · 2024Article
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- Evaluation of strategies for identification of infants with pathogenic glucose-6-phosphate dehydrogenase variants in China.Frontiers in genetics · 2022Article
- Molecular heterogeneity of glucose-6-phosphate dehydrogenase deficiency in neonates in Wuhan: Description of four novel variants.Frontiers in genetics · 2022Article
- Molecular genotyping of G6PD mutations for neonates in Ningbo area.Journal of clinical laboratory analysis · 2021Article
- Cell and Gene Therapy for Anemia: Hematopoietic Stem Cells and Gene Editing.International journal of molecular sciences · 2021Review
- Glucose-6-phosphate dehydrogenase mutations in malaria endemic area of Thailand by multiplexed high-resolution melting curve analysis.Malaria journal · 2021Article
- Newborn Screening for G6PD Deficiency in Xiamen, China: Prevalence, Variant Spectrum, and Genotype-Phenotype Correlations.Frontiers in genetics · 2021Article
- Glucose-6-phosphate dehydrogenase deficiency in the Han Chinese population: molecular characterization and genotype-phenotype association throughout an activity distribution.Scientific reports · 2020Article
- A novel G6PD gene variant in a Chinese girl with favism.Journal of clinical laboratory analysis · 2020Article
Corrections and comments
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Authors and funding
15 authors at 3 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We aim to investigate the mutation types of glucose-6-phosphate dehydrogenase (G6PD) deficiency in Chinese Han children in eastern Fujian Province.A total of 904 Chinese Han neonates (male: 733 with positive G6PD deficiency and 28 with weakly positive deficiency; female: 73 with positive G6PD deficiency and 70 with weakly positive deficiency) received G6PD screening in our center from January 2014 to December 2016 were included in this study. Additionally, 904 age-matched normal Chinese Han individuals (male: 761; female: 143) were selected as control. Neonatal G6PD deficiency screening was performed through blood sample collection from the heels, using the commercial kits. Multicolor melting curve analysis (MMCA) method was used to determine the G6PD mutation type in the 904 cases. If it failed to detect mutations in the cases with abnormal enzyme activity, the polymerase chain reaction (PCR) and gene sequencing were used to determine the mutation sites. PCR and gene sequencing were used to determine the mutation sites in the 904 individuals with normal enzyme activity. Three most common mutation types in Chinese population were compared between Fujian and other provinces.Among the 904 neonates with abnormal G6PD enzyme activity, 17 mutation types were detected including 15 single point mutations and 7 complex mutations. Three most common mutation types were c.1376G > T, c.1388G > A, and c.95A > G accounted for 72.6% of the total mutations in eastern Fujian.The proportion of mutational types in G6PD and the degree of enzyme activity change in various mutational types were found in the neonates of Fujian Province. Our study may enrich the molecular diagnosis of G6PD deficiency meaning Fujian Province.
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