Department of Laboratory Medicine, Zhujiang Hospital, Southern Medical University, Guangzhou, Guangdong, China.
Hum Genomics. 2023 Mar 22;17(1):26. doi: 10.1186/s40246-023-00473-9.
G6PD deficiency is a common inherited disorder worldwide and has a higher incidence rate in southern China. Many variants of G6PD result from point mutations in the G6PD gene, leading to decreased enzyme activity. This study aimed to analyse the genotypic and phenotypic characteristics of G6PD deficiency in Guangzhou, China.
In this study, a total of 20,208 unrelated participants were screened from 2020 to 2022. G6PD deficiency was further analysed by quantitative enzymatic assay and G6PD mutation analysis. The unidentified genotype of the participants was further ascertained by direct DNA sequencing.
A total of 12 G6PD mutations were identified. Canton (c.1376G>T) and Kaiping (c.1388G>A) were the most common variants, and different mutations led to varying levels of G6PD enzyme activity. Comparing the enzyme activities of the 6 missense mutations between the sexes, we found significant differences (P < 0.05) in the enzyme activities of both male hemizygotes and female heterozygotes. Two previously unreported mutations (c.1438A>T and c.946G>A) were identified.
This study provided detailed genotypes of G6PD deficiency in Guangzhou, which could be valuable for diagnosing and researching G6PD deficiency in this area.
G6PD 缺乏症是一种常见的遗传性疾病，全球范围内发病率较高，中国南方发病率更高。许多 G6PD 变异是由于 G6PD 基因的点突变导致酶活性降低所致。本研究旨在分析中国广州地区 G6PD 缺乏症的基因型和表型特征。
本研究于 2020 年至 2022 年期间共对 20208 名无亲缘关系的参与者进行了筛查。通过定量酶活性测定和 G6PD 突变分析进一步分析 G6PD 缺乏症。通过直接 DNA 测序进一步确定参与者的未知基因型。
共鉴定出 12 种 G6PD 突变。广州型（c.1376G>T）和开平型（c.1388G>A）是最常见的变异，不同的突变导致不同程度的 G6PD 酶活性。比较男女 6 种错义突变的酶活性，发现男性半合子和女性杂合子的酶活性存在显著差异（P<0.05）。发现了两种以前未报道的突变（c.1438A>T 和 c.946G>A）。
本研究提供了广州地区 G6PD 缺乏症的详细基因型，对该地区 G6PD 缺乏症的诊断和研究具有重要价值。
