Common Genotypes Screening and Clinical Characteristics of G6PD Deficiency in Dai People of Gestational Age in Yingjiang, Yunnan Province

Xinchao CHEN; Jiehan JIANG; Qing XIONG; Qiuhua WU; Suying ZHANG; Bihui YANG; Jie ZHANG; Yanxiang DUAN; Ming HE

doi:10.12259/j.issn.2095-610X.S20230702

Volume 44 Issue 7

Jul. 2023

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Xinchao CHEN, Jiehan JIANG, Qing XIONG, Qiuhua WU, Suying ZHANG, Bihui YANG, Jie ZHANG, Yanxiang DUAN, Ming HE. Common Genotypes Screening and Clinical Characteristics of G6PD Deficiency in Dai People of Gestational Age in Yingjiang, Yunnan Province[J]. Journal of Kunming Medical University, 2023, 44(7): 16-21. doi: 10.12259/j.issn.2095-610X.S20230702

Citation:

Xinchao CHEN, Jiehan JIANG, Qing XIONG, Qiuhua WU, Suying ZHANG, Bihui YANG, Jie ZHANG, Yanxiang DUAN, Ming HE. Common Genotypes Screening and Clinical Characteristics of G6PD Deficiency in Dai People of Gestational Age in Yingjiang, Yunnan Province[J]. Journal of Kunming Medical University, 2023, 44(7): 16-21. doi: 10.12259/j.issn.2095-610X.S20230702

Citation:

Xinchao CHEN, Jiehan JIANG, Qing XIONG, Qiuhua WU, Suying ZHANG, Bihui YANG, Jie ZHANG, Yanxiang DUAN, Ming HE. Common Genotypes Screening and Clinical Characteristics of G6PD Deficiency in Dai People of Gestational Age in Yingjiang, Yunnan Province[J]. Journal of Kunming Medical University, 2023, 44(7): 16-21. doi: 10.12259/j.issn.2095-610X.S20230702

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Common Genotypes Screening and Clinical Characteristics of G6PD Deficiency in Dai People of Gestational Age in Yingjiang, Yunnan Province

doi: 10.12259/j.issn.2095-610X.S20230702

1.
Maternal and Child Health Hospital of Yingjiang County，Yingjiang Yunnan 679300
2.
Environmental Health Center，Yunnan Provincial Center for Disease Control and Prevention，Kunming Yunnan 650022
3.
Health Center of Nongzhang，Yingjiang County，Yingjiang Yunnan 679300
4.
Dept. of Medical Genetics，The 1st People’s Hospital of Yunnan Province，Kunming Yunnan 650032
5.
Dept. of Biochemistry and Molecular Biology，School of Basic Medicine， Kunming Medical University，Kunming Yunnan 650500，China

Received Date: 2022-08-02
Available Online: 2023-07-17
Publish Date: 2023-07-25

Abstract

Abstract

Objective To analyze the screening results and genotype distribution characteristics of glucose-6-phosphate dehydrogenase （G6PD） deficiency among Dai people in Yingjiang County, Yunnan Province, and to provide a scientific theoretical basis for its prevention and treatment. Methods The G6PD enzyme activity was quantitatively detected in 416 samples of gestational age population of Dai nationality in Yingjiang County by fluorescent spot test （FST）, and the G6PD genotype was detected by next-generation gene sequencing （NGS） technology. The genotype and clinical phenotype were statistically analyzed. Results The G6PD enzyme activity was detected in 416 samples, and the positive rate was 22.12%, of which 27.42% were male and 17.83% were female, and the difference was statistically significant （P < 0.05）. Eight common gene mutation types were identified: c.1311C > T, c.487G > A, c.1388G > A, c.392G > T, c.1376G > T, c.143T > C, c.1024C > T. The carrier rate of c.1311C > T mutation in Yingjiang area was 33.17%. The positive rates of NGS and FST were 53.13% and 22.12%, respectively, and the results of the two methods were poorly consistent （Kappa = 0.280）. The enzyme activity of the c.1311C > T mutation is mostly normal. If the c.1311C > T mutation is not considered, the results of the two methods are more consistent for male samples （Kappa = 0.658） than for females （Kappa = 0.233）. Conclusions The carrier rate of G6PD deficiency is high in the Dai population in Yingjiang County, Yunnan Province. The gene mutations are mainly c.1311C > T, c.487G > A, c.1388G > A, c.392G > T, and c.1376G > T. c.1311C > T mutation and G6PD enzyme activity are mostly normal. The second-generation sequencing technology can simultaneously detect the common mutation types of the Dai people in Yingjiang County, Dehong Prefecture, and significantly improve the positive rate of detection. The fluorescent spot method may miss both female heterozygous and compound heterozygous mutations, and has a higher detection rate for male hemizygous mutations.
- G6PD deficiency,
- Next-generation sequencing,
- Fluorescent spot test

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References(16)

References

[1]	Lee H Y,Ithnin A,Azma R Z,et al. Glucose-6-phosphate dehydrogenase deficiency and neonatal hyperbilirubinemia:Insights on pathophysiology,diagnosis,and gene variants in disease heterogeneity[J]. Frontiers in Pediatrics,2022,10:875877. doi: 10.3389/fped.2022.875877
[2]	Luzzatto L,Ally M,Notaro R. Glucose-6-phosphate dehydrogenase deficiency[J]. Blood,2020,136(11):1225-1240. doi: 10.1182/blood.2019000944
[3]	林芬,杨辉,杨立业. 我国葡萄糖-6-磷酸脱氢酶缺乏症的分布特征和基因突变[J]. 分子诊断与治疗杂志,2016,8(2):73-77.
[4]	He M,Lin K,Huang Y,et al. Prevalence and molecular study of G6PD deficiency in the Dai and Jingpo ethnic groups in the Dehong Prefecture of the Yunnan province[J]. Human Heredity,2018,83(2):55-64. doi: 10.1159/000489009
[5]	詹小芬,张芹,周露,等. 云南省西双版纳州傣族G6PD缺陷症发生率及突变谱研究[J]. 分子诊断与治疗杂志,2015,7(2):83-86.
[6]	章印红,朱宝生,王瑞红,等. 荧光测定法定量测定滤纸片干血斑标本G6PD酶活性的可靠性分析[J]. 中国优生与遗传杂志,2007,15(5):44-45. doi: 10.13404/j.cnki.cjbhh.2007.05.020
[7]	Geck R C,Powell N R,Dunham M J. Functional interpretation, cataloging, and analysis of 1,341 glucose-6-phosphate dehydrogenase variants[J]. Am J Hum Genet,2023,110(2):228-239.
[8]	Djigo O,Ould ASM,Diallo SM,et al. Molecular epidemiology of G6PD genotypes in different ethnic groups residing in Saharan and Sahelian Zones of Mauritania[J]. Pathogens,2021,10(8):931. doi: 10.3390/pathogens10080931
[9]	赵颖,巫静帆,李见群,等. 东莞地区葡萄糖-6-磷酸脱氢酶缺乏症的基因突变筛查[J]. 中华医学遗传学杂志,2018,35(6):840-843.
[10]	李頔,卓召振,王怡萌,等. 贵阳地区5486例孕妇G6PD缺乏症基因突变筛查[J]. 贵州医科大学学报,2019,44(7):777-780.
[11]	苏震,许力丹,李情情,等. 海南地区人群G6PD基因突变分析[J]. 基因组学与应用生物学,2020,39(7):3208-3212. doi: 10.13417/j.gab.039.003208
[12]	Gómez-Manzo S,Marcial-Quino J,Vanoye-Carlo A,et al. Glucose-6-phosphate dehydrogenase:Update and analysis of new mutations around the world[J]. International Journal of Molecular Sciences,2016,17(12):2069. doi: 10.3390/ijms17122069
[13]	Liu Z,Yu C,Li Q,Cai R,et al. Chinese newborn screening for the incidence of G6PD deficiency and variant of G6PD gene from 2013 to 2017[J]. Human Mutation,2020,41(1):212-221. doi: 10.1002/humu.23911
[14]	Sathupak S,Leecharoenkiat K,Kampuansai J. Prevalence and molecular characterization of glucose-6-phosphate dehydrogenase deficiency in the Lue ethnic group of northern Thailand[J]. Scientific Reports,2021,11(1):2956. doi: 10.1038/s41598-021-82477-w
[15]	Yang R L,Qian G L,Wu D W,et al. A multicenter prospective study of next-generation sequencing-based newborn screening for monogenic genetic diseases in China[J]. World J Pediatr,2023,19(7):663-673.
[16]	Chen S,Gao J,Wu Q,et al. Reduction of missed diagnosis of G6PD deficiency in heterozygous females by G6PD/6PGD ratio assay combined with ARMS-PCR[J]. Hum Hered,2022,88(1):1-7.

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