Genetic analysis of neonatal glucose-6-phosphate dehydrogenase deficiency in Guangxi Zhuang Autonomous Region
10.3760/cma.j.cn231583-20210130-00031
- VernacularTitle:广西壮族自治区新生儿葡萄糖-6-磷酸脱氢酶缺乏症的遗传学分析
- Author:
Shihan FENG
1
;
Limei HUANG
;
Tingting JIANG
;
Luping OUYANG
;
Qi YANG
;
Guoxing GENG
Author Information
1. 广西医科大学第二附属医院遗传与基因组医学中心，南宁 530007
- Keywords:
Newborns;
Glucose-6-phosphate dehydrogenase deficiency;
Genetic screening
- From:
Chinese Journal of Endemiology
2021;40(11):927-931
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To study the incidence of glucose-6-phosphate dehydrogenase (G6PD) deficiency and the gene carrying status of newborns in Guangxi Zhuang Autonomous Region (Guangxi for short), so as to provide theoretical basis for clinical genetic counseling and accurate diagnosis.Methods:A total of 63 606 newborns who underwent G6PD screening in Guangxi Neonatal Disease Screening Center from January 2017 to December 2018 were selected as study subjects; heel blood was collected to prepare dry blood spots. Fluorescence quantitative analysis was used in the preliminary screening, and the newborns with positive preliminary screening were recalled by telephone; further diagnosis was carried out via the G6PD/6-phosphogluconate dehydrogenase (6PGD) ratio method and genetic testing, the diagnosis rate of the two methods of newborns with positive preliminary screening were compared and analyzed, and genetic mutation testing was conducted.Results:Among 63 606 newborns who underwent G6PD preliminary screening, 4 267 newborns with G6PD positive were detected, and the positive rate of preliminary screening was 6.7%. Among them, the positive rates of preliminary screening of males and females were 10.3% (3 508/33 988) and 2.6% (759/29 618), respectively. The positive rate of preliminary screening of males was significantly higher than that of females ( P < 0.01). A comparative analysis of 777 newborns (519 males and 258 females) that underwent G6PD/6PGD ratio method and genetic testing at the same time as the recall showed that the diagnosis rate of the two methods for male newborns was the same, both of which were 95.6% (496/519). Among female newborns, 168 and 236 confirmed cases were detected by G6PD/6PGD ratio method and genetic testing, respectively, and the diagnosis rates were 65.1% (168/258) and 91.5% (236/258), respectively. The results of genetic mutation testing showed that the five common genotypes in Guangxi were c.1388 G>A, c.1376 G>T, c.95 A>G, c.871 G>A, and c.1024 C>T, respectively. Conclusions:The positive rate of G6PD preliminary screening of newborns in Guangxi is relatively high. It is recommended that G6PD/6PGD ratio method and genetic testing should be performed at the same time for diagnosis of female newborns with positive preliminary screening to avoid missed diagnosis and misdiagnosis.
