Department of Clinical Laboratory & Zhuhai Institute of Medical Genetics, Zhuhai Maternity and Child Healthcare Hospital, Zhuhai, Guangdong, China.
Pathology Department, Zhuhai Maternity and Child Healthcare Hospital, Zhuhai, China.
PeerJ. 2024 Jan 3;12:e16554. doi: 10.7717/peerj.16554. eCollection 2024.
Glucose-6-phosphate dehydrogenase (G6PD) is a the first and rate-limiting enzyme that plays a critical role in G6PD deficiency, the most common enzyme disorder worldwide, is related to intravascular hemolysis. To determine the clinical enzyme activity level in different G6PD variants, we evaluated 15 variant from 424 clinical blood samples by using multicolor melting curve analysis and DNA sequencing. The results showed that the enzyme activities of the hemizygous deficient were 1.5-2.4 U/gHb, which was significantly lower than those of the heterozygous ( < 0.001) and the compound heterozygous variants ( < 0.05). Since the hemizygous of c.1024C > T (Chinese-5) mutation affects the kinetic parameters of G6PD and increase utilization of analogues, its enzyme activity is more than those of other mutations that mutated in the β+α region of G6PD. The heterozygous enzyme levels ranged from 6.5-20.1 U/gHb; and there was no significant difference among different heterozygous variants ( > 0.05). The enzyme activity levels of the compound heterozygous mutation were mainly in the range of 1.7-3.8 U/gHb, which was much lower than that of the heterozygous mutation ( < 0.001). In summary, our findings revealed that the enzyme activity of G6PD in blood have a significant relationship with genotype of G6PD.
葡萄糖-6-磷酸脱氢酶（G6PD）是一种关键酶，是 G6PD 缺乏症（全球最常见的酶缺陷病）的限速酶，与血管内溶血有关。为了确定不同 G6PD 变异体的临床酶活性水平，我们通过多色熔解曲线分析和 DNA 测序评估了 424 例临床血样中的 15 种变异体。结果表明，杂合子缺陷的酶活性为 1.5-2.4 U/gHb，明显低于杂合子（<0.001）和复合杂合子变异体（<0.05）。由于 c.1024C>T（中国-5）突变的半合子会影响 G6PD 的动力学参数并增加类似物的利用，因此其酶活性高于 G6PD 的β+α 区域突变的其他突变。杂合子酶水平范围为 6.5-20.1 U/gHb；不同杂合子变异体之间无显著差异（>0.05）。复合杂合子突变的酶活性水平主要在 1.7-3.8 U/gHb 范围内，明显低于杂合子突变（<0.001）。总之，我们的研究结果表明，血液中 G6PD 的酶活性与 G6PD 的基因型有显著关系。
