Molecular Characterization of Glucose-6-Phosphate Dehydrogenase Deficiency in the Shenzhen Population

Gao J.a· Lin S.a· Chen S.a· Wu Q.a· Zheng K.a· Su J.a· Guo Z.b· Duan S.a

Author affiliations

aLaboratory of Molecular Medicine, Shenzhen Health Development Research Center, Shenzhen, China
bShenzhen Luohu Maternity and Child Healthcare Hospital, Shenzhen, China

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Article / Publication Details

First-Page Preview

Abstract of Original Paper

Received: January 08, 2021
Accepted: April 22, 2021
Published online: June 16, 2021

Number of Print Pages: 7
Number of Figures: 1
Number of Tables: 3

ISSN: 0001-5652 (Print)
eISSN: 1423-0062 (Online)

For additional information: https://www.karger.com/HHE

Abstract

Background: Glucose-6-phosphate dehydrogenase (G6PD) deficiency is caused by one or more mutations in the G6PD gene on chromosome X. This study aimed to characterize the G6PD gene variant distribution in Shenzhen of Guangdong province. Methods: A total of 33,562 individuals were selected at the hospital for retrospective analysis, of which 1,213 cases with enzymatic activity-confirmed G6PD deficiency were screened for G6PD gene variants. Amplification refractory mutation system PCR was first used to screen the 6 dominant mutants in the Chinese population (c.1376G>T, c.1388G>A, c.95A>G, c.1024C>T, c.392G>T, and c.871G>A). If the 6 hotspot variants were not found, next-generation sequencing was then performed. Finally, Sanger sequencing was used to verify all the mutations. Results: The incidence of G6PD deficiency in this study was 3.54%. A total of 26 kinds of mutants were found in the coding region, except for c.-8-624T>C, which was in the noncoding region. c.1376G>T and c.1388G>A, both located in exon 12, were the top 2 mutants, accounting for 68.43% of all individuals. The 6 hotspot mutations had a cumulative proportion of 94.02%. Conclusions: This study provided detailed characteristics of G6PD gene variants in Shenzhen, and the results would be valuable to enrich the knowledge of G6PD deficiency.

© 2021 S. Karger AG, Basel

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First-Page Preview

Abstract of Original Paper

Received: January 08, 2021
Accepted: April 22, 2021
Published online: June 16, 2021

Number of Print Pages: 7
Number of Figures: 1
Number of Tables: 3

ISSN: 0001-5652 (Print)
eISSN: 1423-0062 (Online)

For additional information: https://www.karger.com/HHE

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