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Published on: September 25, 2015
[Relationship between glucose-6-phosphate dehydrogenase gene mutations and neonatal jaundice in Naning, Guangxi]
Dan-Ni Zhong1, Zong-Yan Gao, You-Nan Liu
1Department of Pediatrics, First Affiliated Hospital, Guangxi Medical University, Nanning 530021, China. danny5911@163.com
Insights
Common glucose-6-phosphate dehydrogenase (G-6-PD) gene mutations (G1388A, G1376T, A95G) were identified in Nanning, Guangxi neonates. These mutations alone did not significantly impact neonatal jaundice severity or bilirubin levels.
Area of Science:
- Medical Genetics
- Neonatology
- Biochemistry
Background:
- Glucose-6-phosphate dehydrogenase (G-6-PD) deficiency is a common genetic disorder.
- Neonatal jaundice is a frequent complication, and G-6-PD deficiency is a known risk factor.
- Understanding the specific G-6-PD gene mutations and their clinical impact is crucial for effective management.
Purpose of the Study:
- To investigate the correlation between G-6-PD enzyme activity and specific G-6-PD gene mutations (G1388A, G1376T, A95G).
- To evaluate the impact of these G-6-PD gene mutations on the development and severity of neonatal jaundice in Nanning, Guangxi.
- To assess the diagnostic accuracy of the NBT method for G-6-PD deficiency in the presence of these mutations.
Main Methods:
- Genotyping of G-6-PD gene mutations (G1388A, G1376T, A95G) using ARMS-PCR and PCR/REA.
- Measurement of G-6-PD enzyme activity via the NBT method.
- Comparison of neonatal outcomes, including peak bilirubin levels and acute bilirubin encephalopathy incidence, among different genotypes and with the normal group.
Main Results:
- G-6-PD gene mutations were detected in 37 out of 124 neonates, with G1388A, G1376T, and A95G being the prevalent mutations.
- Some G-6-PD gene mutations showed normal G-6-PD activity, suggesting potential false negatives with the NBT method.
- No significant differences were observed in the incidence of acute bilirubin encephalopathy or peak bilirubin concentrations between mutation groups and the normal group.
Conclusions:
- G1388A, G1376T, and A95G are common G-6-PD gene mutations in the Nanning, Guangxi population.
- The NBT method may yield false-negative results for G-6-PD deficiency diagnosis.
- G-6-PD gene mutations alone do not appear to be the sole determinant for the development of acute bilirubin encephalopathy or elevated peak bilirubin levels in neonates.
Objective:
To study the correlation between glucose-6-phosphate dehydrogenase (G-6-PD) activities and three common mutations of G-6-PD gene G1388A, G1376T and A95G and investigate the effects of G-6-PD gene mutations on neonatal jaundice in Nanning, Guangxi.
Methods:
One hundred and twenty-four neonates from Nanning, Guangxi, with hyperbilirubinemia were enrolled. The ARMS-PCR and PCR/REA methods were used to determine G-6-PD gene mutations. G-6-PD activities were measured using the NBT method. The incidence of acute bilirubin encephalopathy and the peak bilirubin concentration 72 hrs after birth were compared between the neonates with different genotypes and between the G-6-PD mutation and normal groups. The risk of blood serum bilirubin >340 mumol/L was evaluated by logistic regression analysis.
Results:
Of the 124 cases, gene mutations were found in 37 cases, including G1388A (n=20), G1376T (n=14), A95G (n=4) and G1388A+A95G (n=1). Five cases (25%) showed normal G-6-PD activities in the G1388A gene mutation group and 4 (29%) had normal G-6-PD activities in the G1376T G1388A gene mutation group. All of 4 cases of A95G G1388A gene mutation showed a deficiency of G-6-PD activities. There were no significant differences in the incidence of acute bilirubin encephalopathy and the peak bilirubin concentration 72 hrs after birth between the G1388A and G1376T G1388A gene mutation groups. The incidence of acute bilirubin encephalopathy, the peak bilirubin concentration 72 hrs after birth and the risk of serum bilirubin >340 micromol/L in the G-6-PD mutation group were not different from the normal group.
Conclusions:
G1388A, G1376T and A95G are common G-6-PD gene mutations in Nanning, Guangxi. The false negative results may be received when the NBT method is used for diagnosis of G-6-PD deficiency. There are similar effects on the incidence of acute bilirubin encephalopathy and the peak bilirubin concentration 72 hrs after birth between different gene mutation groups. G-6-PD gene mutations alone may not contribute to the development of acute bilirubin encephalopathy and the changes of peak bilirubin concentration 72 hrs after birth and the risk of serum bilirubin >340 micromol/L.
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