Glucose‐6‐phosphate dehydrogenase deficiency does not result from mutations in the promoter region of the G6PD gene

Over the second half of 20th century much research on lipogenesis has been conducted, especially focused on increasing the production efficiency and improving the quality of animal derived products. However, many diferences are observed in the physiology of lipogenesis between species. Recently, many studies have also elucidated the involvement of numerous genes in this procedure, highlighting diferences not only at physiology but also at the molecular level. The main scope of this review is to point out the major differences between ruminant and non ruminant species, that are observed in key regulatory genes involved in lipogenesis. Human is used as a central reference and according to the findinggs, main differences are analysed. These findings could serve not only as basis for understanding the main physiology of lipogenesis and further basic research, but also as a basis for any animal scientist to develop new concepts and methods for use in improving animal production and modern genetic improvement.

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“…Although Menousos et al . [ 71 ] tried to associate promoter G6PD mutations with deficient cases, no correlation was found.…”

Section: Focusing On Molecular Levelmentioning

confidence: 99%

Comparative Approach of the de novo Fatty Acid Synthesis (Lipogenesis) between Ruminant and Non Ruminant Mammalian Species: From Biochemical Level to the Main Regulatory Lipogenic Genes

Laliotis

Bizelis²,

Rogdakis³

2010

118

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“…Correct promoter functioning is needed for the proper expression of G6PD that is under the control of some unidentified specific factors and elements [31] . However, no sequence variations were identified in previous studies [32] in the G6PD core promoter or in the 5′UTR of G6PD deficient individuals who had no mutations in their exons 2-13. Human G6PD gene, as a housekeeping gene, has at least 9 GC boxes in its regulatory 5′-flanking sequence and its promoter function depends on 2 GC boxes that are cell specifically controlled [33] .…”

Section: Discussionmentioning

confidence: 59%

Characterization of glucose-6-phosphate dehydrogenase deficiency and identification of a novel haplotype 487G>A/IVS5-612(G>C) in the Achang population of Southwestern China

Yang

Zhu

et al. 2007

SCI CHINA SER C

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The prevalence of glucose-6-phosphate dehydrogenase (G6PD) deficiency and its gene mutations were studied in the Achang population from Lianghe County in Southwestern China. We found that 7.31% (19 of 260) males and 4.35% (10 of 230) females had G6PD deficiency. The molecular analysis of G6PD gene exons 2-13 was performed by a PCR-DHPLC-Sequencing or PCR-Sequencing. Sixteen independent subjects with G6PD Mahidol (487G>A) and the new polymorphism IVS5-612 (G>C), which combined into a novel haplotype, were identified accounting for 84.2% (16/19). And 100% Achang G6PD Mahidol were linked to the IVS5-612 C. The percentage of G6PD Mahidol in the Achang group is close to that in the Myanmar population (91.3% 73/80), which implies that there are some gene flows between Achang and Myanmar populations. Interestingly, G6PD Canton (1376G>T) and G6PD Kaiping (1388G>A), which were the most common G6PD variants from other ethnic groups in China, were not found in this Achang group, suggesting that there are different G6PD mutation profiles in the Achang group and other ethnic groups in China. Our findings appear to be the first documented report on the G6PD genetics of the AChang people, which will provide important clues to the Achang ethnic group origin and will help prevention and treatment of malaria in this area.

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“…This may be due to mutations that occur in other regions of the gene that were not investigated in this study, such as mutation in the intronic flanking regions, or cryptic mutations in the promoter region [ 20 , 24 ]. Another possible explanation is epigenetic mechanisms that influence gene transcription [ 25 ]. Toniolo et al [ 26 ] reported G6PD expression to be associated with the methylation status of the promoter CpG island.…”

Section: Discussionmentioning

confidence: 99%

Cut-off values for diagnosis of G6PD deficiency by flow cytometry in Thai population

et al. 2022

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In heterozygous females, X-inactivation causes a change in glucose-6-phosphate dehydrogenase (G6PD) activity from normal to deficient. Most G6PD screening tests are used to accurately diagnose hemizygous males, but they are less reliable for diagnosing heterozygous females. This study established flow cytometric cut-off values for screening of G6PD deficiency in hemizygous males and heterozygous or homozygous females. We studied 205 (125 females, 80 males) leftover blood samples from quantitative methemoglobin reduction (MR) screening. G6PD gene mutations determined by multiplex amplification refractory mutation system-polymerase chain reaction and direct DNA sequencing were used as the gold standard reference. Accuracy of the test, including the sensitivity, specificity, and positive and negative predictive values, was analyzed using MedCalc software. The optimal cut-off values for classification of %red blood cells with normal G6PD activity or %bright cells into homozygous normal, heterozygous, and homozygous deficiency in females were 85.4–100%, 6.3–85.3%, and 0–6.2%, respectively (sensitivity 93.2%, specificity 100%). The cut-offs for classification into hemizygous normal and hemizygous deficiency in males were 76.5–100% and 0–76.4%, respectively (sensitivity 100%, specificity 96.5%). Flow cytometry can be used to differentiate heterozygous females with intermediate phenotype from homozygous females, but cannot distinguish between heterozygous females with extreme phenotype and homozygous females. By flow cytometry, heterozygous and homozygous deficiency was detected in 29.6% and 3.2% of females, respectively. Among males, hemizygous deficiency was found in 31.3%. Flow cytometry can be used to screen patients with G6PD deficiency, and reliably and efficiently identify heterozygous and homozygous females, and hemizygous males based on cellular G6PD activity.

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Glucose‐6‐phosphate dehydrogenase deficiency does not result from mutations in the promoter region of the G6PD gene

Cited by 6 publications

References 8 publications

Comparative Approach of the de novo Fatty Acid Synthesis (Lipogenesis) between Ruminant and Non Ruminant Mammalian Species: From Biochemical Level to the Main Regulatory Lipogenic Genes

Comparative Approach of the de novo Fatty Acid Synthesis (Lipogenesis) between Ruminant and Non Ruminant Mammalian Species: From Biochemical Level to the Main Regulatory Lipogenic Genes

Characterization of glucose-6-phosphate dehydrogenase deficiency and identification of a novel haplotype 487G>A/IVS5-612(G>C) in the Achang population of Southwestern China

Cut-off values for diagnosis of G6PD deficiency by flow cytometry in Thai population

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