Publication: Significance of 3′UTR and pathogenic haplotype in glucose-6-phosphate deficiency
Issued Date
2017-01-01
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ISSN
19437730
00075027
00075027
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2-s2.0-85019953619
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Mahidol University
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SCOPUS
Bibliographic Citation
Lab Medicine. Vol.48, No.1 (2017), 73-88
Suggested Citation
Mallika Chaowanathikhom, Pornlada Nuchnoi, Duangdao Palasuwan Significance of 3′UTR and pathogenic haplotype in glucose-6-phosphate deficiency. Lab Medicine. Vol.48, No.1 (2017), 73-88. doi:10.1093/labmed/lmw065 Retrieved from: https://repository.li.mahidol.ac.th/handle/20.500.14594/41986
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Title
Significance of 3′UTR and pathogenic haplotype in glucose-6-phosphate deficiency
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Abstract
© American Society for Clinical Pathology, 2017. All rights reserved. Objective: To determine the polymorphisms in the 30 untranslated region (3′UTR) of the G6PD gene and analyze the specific SNPs or haplotypes that may affect messenger RNA (mRNA) secondary structure by in silico analysis. Methods: We studied the 3′UTR polymorphisms in 107 healthy subjects living in Thailand (ethnicities unknown). The haplotype was analyzed using Haploview software. mRNA secondary structure and microRNA binding of the G6PD gene were predicted by use of the CLC Main Workbench 6.9 and RegRNA 2.0 programs. Results: The results revealed 1 new variant in the 3′UTR of the G6PD gene (c.∗99A>G). Haplotype ATCG showed significance by associationtest results that yielded a high odds ratio (OR, 7.90; 95% confidence interval [CI], 3.15-19.81). Moreover, this haplotype affected G6PD mRNA secondary structure changes and microRNA binding via in silico analysis. Conclusions: These results suggest that the haplotype ATCG is associated with reduction of G6PD enzyme expression, G6PD mRNA secondary structure changes, and microRNA binding via in silico analysis.