Molecular epidemiological investigation of G6PD deficiency in Yangjiang region, western Guangdong province

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Abstract

Objectives: The prevalence of G6PD deficiency has not been reported in Yangjiang, a western city in Guangdong province. This study aims to investigate the molecular characteristics of G6PD deficiency in this region.

Methods: Blood samples were collected from adults at a local hospital to screen for G6PD deficiency. The deficient samples were subjected to further analysis using PCR and reverse dot blot to determine the specific G6PD variants.

Results: Among the 3314 male subjects, 250 cases of G6PD deficiency were found using the G6PD enzyme quantitative assay, resulting in a prevalence of 7.54% (250/3314) in the Yangjiang region. The prevalence of G6PD deficiency in females was 3.42% (176/5145). Out of the 268 cases of G6PD deficiency tested for G6PD mutations, reverse dot blot identified 20 different G6PD variants. The most common G6PD variant was c.1388G>A (81/268), followed by c.1376G>T (48/268), c.95A>G (32/268), c.1024C>T (9/268), c.392G>T (7/268), and c.871G>A/c.1311C>T (6/268). It was observed that c.871G>A was always linked to the polymorphism of c.1311C>T in this population.

Conclusion: This investigation into G6PD deficiency in this area is expected to significantly improve our understanding of the prevalence and molecular characterization of this condition.

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Most cited references 29

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Glucose-6-phosphate dehydrogenase deficiency. WHO Working Group.

O Sodeinde, L Luzzatto, A-v der Velden AA … (1988)

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the commonest enzyme disorder of human beings and a globally important cause of neonatal jaundice, which can lead to kernicterus and death or spastic cerebral palsy. It can also lead to life-threatening haemolytic crises in childhood and at later ages, by interacting with specific drugs and with fava beans in the diet. The complications of G6PD deficiency can largely be prevented by education and information, and neonatal jaundice can be successfully treated by phototherapy, a cheap and simple approach suitable for use in primary health care. This update describes developments in the methodology for characterizing G6PD deficiency, recent knowledge of the factors that can cause haemolysis, community approaches for prevention of haemolytic crises and neonatal jaundice, and the implications of recent advances at the DNA level.

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Chinese newborn screening for the incidence of G6PD deficiency and variant of G6PD gene from 2013 to 2017.

Zhidai Liu, Chaowen Yu, Qingge Li … (2020)

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is one of the most common X-linked enzymopathies caused by G6PD gene variant. We aimed to provide the characteristics of G6PD deficiency and G6PD gene variant distribution in a large Chinese newborn screening population. We investigated the prevalence of G6PD in China from 2013 to 2017. Then, we examined G6PD activity and G6PD gene in representative Chinese birth cohort to explore the distribution of G6PD gene variant in 2016. We then performed multicolor melting curve analysis to classify G6PD gene variants in 10,357 neonates with activity-confirmed G6PD deficiency, and DNA Sanger sequencing for G6PD coding exons if hot site variants were not found. The screened population, organizations, and provinces of G6PD deficiency were increased from 2013 to 2017 in China. The top five frequency of G6PD gene variants were c.1376G>T, c.1388G>A, c.95A>G, c.1024C>T, and c.871G>A and varied in different provinces, with regional and ethnic features, and four pathogenic variant sites (c.152C>T, c.290A>T, c.697G>C, and c.1285A>G) were first reported. G6PD deficiency mainly occurs in South China, and the frequency of G6PD gene variant varies in different regions and ethnicities.

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Glucose-6-phosphate dehydrogenase deficiency in the Han Chinese population: molecular characterization and genotype–phenotype association throughout an activity distribution

Ying Juan He, Yinhui Zhang, Xionghao Chen … (2020)

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a common hereditary disorder in China. The existing prevalence and molecular epidemiology of G6PD deficiency in China were geographically limited. In this study, the spectrum of G6PD gene mutations was well characterized in a large and diverse population all over the country; and the correlation of genotype and enzyme activity phenotype was explored for the first time. The results showed that the overall prevalence of G6PD deficiency in China was 2.10% at the national level. The top six common mutations were c.1388 G>A, c.1376 G>T, c.95 A>G, c.392 G>T, c.871 G>A and c.1024 C>T, accounting for more than 90% of G6PD deficient alleles. Compound mutation patterns were frequently observed in females with severe deficiency. The distribution of G6PD activities depended on the type of mutation patterns and genders. Hemizygote, homozygote, and compound heterozygote were predominantly associated with severe G6PD deficiency, whereas heterozygotes with single mutation mainly presented moderate enzyme deficiency. A significant gap between G6PD activities in hemizygous and normal males was observed, and yet, the overall distribution of that in females carrying missense mutations was a continuum from G6PD severely deficient to normal. This is the first report of discussing the association between G6PD genetic variants in the Chinese and enzyme activity phenotypes.

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Author and article information

Contributors

Hong-Feng Liang: Role: Role: Role:

Yan-Bin Cao: Role: Role: Role:

Fen Lin: URI : https://loop.frontiersin.org/people/2335644/overviewRole: Role:

Yi-Kang Yang: Role: Role: Role:

Yu-Wei Liao: Role: Role: Role: Role: Role: Role: Role:

Jin-Ling Chen: Role: Role: Role: Role:

Yan-Qing Zeng: Role: Role: Role:

Yu-Chan Huang: Role: Role: Role:

Guang-Kuan Zeng: Role: Role: Role: Role:

Zhi-Xiao Chen: Role: Role: Role: Role:

Jing-Wei Situ: Role: Role: Role: Role:

Jin-Xiu Yao: Role: Role: Role:

Li-Ye Yang: URI : https://loop.frontiersin.org/people/1721136/overviewRole: Role: Role: Role: Role:

Journal

Journal ID (nlm-ta): Front Genet

Journal ID (iso-abbrev): Front Genet

Journal ID (publisher-id): Front. Genet.

Title: Frontiers in Genetics

Publisher: Frontiers Media S.A.

ISSN (Electronic): 1664-8021

Publication date (Electronic): 09 January 2024

Publication date Collection: 2023

Volume: 14

Electronic Location Identifier: 1345537

Affiliations

[1] ¹ Precision Medical Lab Center , People’s Hospital of Yangjiang , Yangjiang, Guangdong, China

[2] ² Precision Medical Lab Center , Chaozhou Central Hospital , Chaozhou, Guangdong, China

[3] ³ Institute of Medicine and Nursing , Hubei University of Medicine , Shiyan, Hubei, China

[4] ⁴ Department of Laboratory Medicine , People’s Hospital of Yangjiang , Yangjiang, Guangdong, China

[5] ⁵ Department of Transfusion , People’s Hospital of Yangjiang , Yangjiang, Guangdong, China

Author notes

Edited by: Hui-Qi Qu, Children’s Hospital of Philadelphia, United States

Reviewed by: Giovanni Mario Pes, University of Sassari, Italy

Min Lin, Hanshan Normal University, China

Ari Winasti Satyagraha, Eijkman Institute for Molecular Biology, Indonesia

Richard Oscar Francis, Columbia University, United States

*Correspondence: Li-Ye Yang, yangleeyee@ 123456sina.com

[ † ]

ORCID: Li-Ye Yang, https://orcid.org/0000-0003-1581-9089

Article

Publisher ID: 1345537

DOI: 10.3389/fgene.2023.1345537

PMC ID: 10803456

PubMed ID: 38264207

SO-VID: 95f10308-06bf-4050-9f26-f25b4c9b3450

License:

This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

History

Date received : 28 November 2023

Date accepted : 28 December 2023

Funding

The author(s) declare financial support was received for the research, authorship, and/or publication of this article. This study was supported by the High Level Development Plan of People’s Hospital of Yangjiang (Nos G2020007 and 2021007) and the High Level and Key Health Research Plan of Yangjiang (No. 2023001).

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section-at-acceptance Applied Genetic Epidemiology

ScienceOpen disciplines: Genetics

Keywords: g6pd deficiency,g6pd mutation,dna sequence,china,gene variant

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ScienceOpen disciplines: Genetics

Keywords: g6pd deficiency, g6pd mutation, dna sequence, china, gene variant

Molecular epidemiological investigation of G6PD deficiency in Yangjiang region, western Guangdong province

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Most cited references 29

Glucose-6-phosphate dehydrogenase deficiency. WHO Working Group.

Chinese newborn screening for the incidence of G6PD deficiency and variant of G6PD gene from 2013 to 2017.

Glucose-6-phosphate dehydrogenase deficiency in the Han Chinese population: molecular characterization and genotype–phenotype association throughout an activity distribution

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