G6PD genetic variations in neonatal Hyperbilirubinemia in Indonesian Deutromalay population

Wisnumurti, Dewi Anggraini; Sribudiani, Yunia; Porsch, Robert M.; Maskoen, Ani Melani; Rahayuningsih, Sri Endah; Asni, Enikarmila; Sleutels, Frank; IJcken, Wilfred F. J. van; Sukadi, Abdurachman; Achmad, Tri Hanggono

doi:10.1186/s12887-019-1882-z

Cited by 10 publications

(11 citation statements)

References 18 publications

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“…These results suggest that all G6PD variants can be caused by G6PD deficiency. The application of bioinformatics tools in G6PD mutations has been investigated in different populations [ 52 – 54 ]. In Chinese ethnicity, the lowest enzyme activity is G6PD Canton variant, which was recorded in the Union variant of our data [ 18 ].…”

Section: Discussionmentioning

confidence: 99%

Molecular Characterization and Genotype-Phenotype Correlation of G6PD Mutations in Five Ethnicities of Northern Vietnam

Ngo

Tran

et al. 2022

Anemia

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Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common enzyme disorder and is caused by G6PD gene mutations. To date, more than 400 variants in the G6PD gene have been discovered, and about 160 identified variants are associated with a significant decrease in the G6PD enzyme activity. However, the molecular characterization and epidemiological study of G6PD deficiency are still limited in Vietnam. Therefore, we conducted this study to determine the G6PD variants among the Vietnamese populations and evaluate their correlation to G6PD enzyme activity. A total of 339 patients (302 males and 37 females) were enrolled in this study. The G6PD variants were identified by Sanger sequencing. Our results indicate that males are more severely deficient in G6PD than females. This enzyme activity in males (1.27 ± 1.06 IU/g·Hb) is significantly lower than in females (2.98 ± 1.57 IU/g·Hb) ( p < 0.0001 ). The enzyme activity of the heterozygous-homozygous females and heterozygous females-hemizygous males was found to be significantly different ( p < 0.05 ), which is interpreted due to random X-inactivation. For G6PD molecular characteristics, Viangchan (c.871G>A), Canton (c.1376G>T) and Kaiping (c.1388G>A) variants were the most dominant, accounting for 24.48%, 17.70%, and 22.42%, respectively, whereas the highest frequency of complex variants was observed in Viangchan/Silent with 20.35%. In terms of G6PD activity, the Union variant presented the lowest mean value (1.03 IU/g·Hb) compared to the other variants ( p < 0.05 ). Computational analysis using Polyphen-2 tool investigated that all variants were relative to G6PD deficiency and separated the levels as benign and damaged. The result will establish effective methods to screen G6PD variants in Vietnam.

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Section: Discussionmentioning

confidence: 99%

Molecular Characterization and Genotype-Phenotype Correlation of G6PD Mutations in Five Ethnicities of Northern Vietnam

Ngo

Tran

et al. 2022

Anemia

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“…The G6PD gene (OMIM ID: 305900) spans 18 kb on the X chromosome (Xq28), contains an open reading frame of 1,545 bp, and encodes 515 amino acids ( Tian et al, 2013 ; Wisnumurti et al, 2019 ). To date, approximately 217 mutations have been described worldwide ( Gómez-Manzo et al, 2016 ).…”

Section: Introductionmentioning

confidence: 99%

Simultaneous detection of G6PD mutations using SNPscan in a multiethnic minority area of Southwestern China

Wei

Wang²,

Huang³

et al. 2023

Front. Genet.

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Objectives: Baise, a multiethnic inhabited area of southwestern China, is a historical malaria-endemic area with a high prevalence of G6PD deficiency. However, few studies of G6PD deficiency have been conducted in this region. Therefore, we performed a genetic analysis of G6PD deficiency in the Baise population from January 2020 to June 2021.Methods: A SNPscan assay was developed to simultaneously detect 33 common Chinese G6PD mutations. 30 G6PD-deficient samples were used for the method’s validation. Then, a total of 709 suspected G6PD-deficient samples collated from the Baise population were evaluated for G6PD status, type of mutation and effect of mutations.Results: The SNPscan test had a sensitivity of 100% [95% confidence interval (CI): 94.87%–100%] and a specificity of 100% (95% CI: 87.66%–100%) for identifying G6PD mutations. A total of fifteen mutations were identified from 76.72% (544/709) of the samples. The most common mutation was discovered to be G6PD Kaiping (24.12%), followed by G6PD Canton (17.91%), and G6PD Gaohe (11.28%). We compared the G6PD mutation spectrum among Zhuang, Han and other Southeast Asian populations, and the Zhuang population’s mutation distribution was quite similar to that in the Han population.Conclusion: This study provided a detailed G6PD mutation spectrum in Baise of southwestern China and will be valuable for the diagnosis and research of G6PD deficiency in this area. Furthermore, the SNPscan assay could be used to quickly diagnose these G6PD mutations accurately.

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“…Data of Malaysia are reported from [ 7 , 37 – 40 ]. Data of western Indonesia are reported in Javanese, Betawi and Sundanese [ 7 , 41 , 42 ]. Data of eastern Indonesia are reported from [ 7 , 8 , 11 , 13 , 43 ].…”

Section: Introductionmentioning

confidence: 99%

“…With respect to the molecular analyses of G6PD genotypes among western Indonesian populations, 24 cases of Java islanders (17 Javanese, 6 Betawi and 1 Sundanese) have been reported so far (Tables 1 and 2 ; [ 7 , 41 , 42 ]). The presence of G6PD Viangchan, G6PD Mahidol, G6PD Mediterranean and G6PD 1311T/93C in these Java islanders may imply a resemblance to the frequency distribution of the Malaysian Malay population (Table 2 ).…”

Section: Introductionmentioning

confidence: 99%

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Distribution of G6PD deficiency genotypes among Southeast Asian populations

Tantular

Kawamoto

2021

Trop Med Health

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Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a group of X-linked, hereditary genetic disorders caused by mutations in the G6PD gene and results in functional variants of about 400 biochemical and clinical phenotypes. Among them, more than 215 genotypes have been identified so far. In this review, specific features of the genotype distribution in different communities and countries are discussed based on multiple reports and our molecular epidemiological studies of Southeast Asian countries. Particularly, in Indonesia, the frequency distribution of G6PD deficiency variants was distinct between western and eastern Indonesian populations, suggesting two different gene flows during Indonesian expansions.

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G6PD genetic variations in neonatal Hyperbilirubinemia in Indonesian Deutromalay population

Cited by 10 publications

References 18 publications

Molecular Characterization and Genotype-Phenotype Correlation of G6PD Mutations in Five Ethnicities of Northern Vietnam

Molecular Characterization and Genotype-Phenotype Correlation of G6PD Mutations in Five Ethnicities of Northern Vietnam

Simultaneous detection of G6PD mutations using SNPscan in a multiethnic minority area of Southwestern China

Distribution of G6PD deficiency genotypes among Southeast Asian populations

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