Epidemiological Characteristics of G6PD Deficiency in the Dai Population of Yunnan Province and a Pedigree Study on the Effects of X-Chromosome Inactivation on Female Phenotypes

Yuecheng YANG; Xiaolai ZHANG; Fang LIU; Jie ZHANG; Ming HE; Wei YI; Junxue NI

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Yuecheng YANG, Xiaolai ZHANG, Fang LIU, Jie ZHANG, Ming HE, Wei YI, Junxue NI. Epidemiological Characteristics of G6PD Deficiency in the Dai Population of Yunnan Province and a Pedigree Study on the Effects of X-Chromosome Inactivation on Female Phenotypes[J]. Journal of Kunming Medical University.

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Epidemiological Characteristics of G6PD Deficiency in the Dai Population of Yunnan Province and a Pedigree Study on the Effects of X-Chromosome Inactivation on Female Phenotypes

1.
Department of Pediatrics，The Second Affiliated Hospital of Kunming Medical University，Kunming Yunnan 650032
2.
School of Clinical Medicine，Dali University，Dali Yunnan 671003
3.
Department of Genetics，The First People’s Hospital of Yunnan Province，Kunming Yunnan 650032
4.
Department of Biochemistry and Molecular Biology，School of Basic Medical Sciences，Kunming Medical University，Kunming Yunnan 650500
5.
Clinical Laboratory，The People’s Hospital of Dehong Prefecture，Mangshi Yunnan 678400
6.
Department of Pediatrics，The First People’s Hospital of Yunnan Province，Kunming Yunnan 650032，China

Received Date: 2026-02-25

Abstract

Abstract

Objective To investigate the epidemiological features and mutation spectrum of G6PD deficiency in the Dai population of Yunnan Province and to analyze the relationship between G6PD enzyme activity and X-chromosome inactivation （XCI） in female heterozygous from 26 families carrying the c.487G > A mutation. Methods A total of 1, 596 samples were collected from the Dai populations of Dehong and Xishuangbanna prefectures, Yunnan Province, from May 2018 to April 2025, including 1, 009 samples from Dehong Prefecture and 587 samples from Xishuangbanna Prefecture. Next-generation sequencing was employed to screen for 10 known G6PD gene mutation sites, and the fluorescent spot test was used to detect G6PD enzyme activity. Statistical analyses were performed to assess the associations of sex and mutation type with alterations in enzyme activity. Twenty-six families carrying the c.487G > A mutation were enrolled. G6PD mutations were identified by PCR and Sanger sequencing; enzyme activity was measured using a dried blood spot fluorescence assay, and XCI status was assessed by methylation-sensitive PCR with X-linked polymorphic markers. Results Among the 1, 596 screened individuals, 768 samples were found to carry G6PD mutations, with a carrier rate of 48.12%. G6PD deficiency was detected in 14.53% of the population. The most common mutation was c.487G > A, followed by c.1388G > A and c.1376G > T. Among 30 female carriers from 26 families, enzyme activity varied markedly, ranging from deficient to normal levels. XCI analysis showed that skewed XCI was associated with reduced G6PD enzyme activity, whereas carriers with random XCI generally maintained normal activity. The mutant X chromosome showed a higher activity rate in women with abnormal enzyme activity than in those with normal activity. Conclusion The Dai population of Dehong Prefecture and Xishuangbanna Prefecture, Yunnan Province, has a high carrier rate of G6PD mutations, with c.487G > A being the predominant variant. Phenotypic variability in female heterozygous carriers is influenced not only by genotype but also by XCI skewing. Integrating mutation analysis, enzyme activity testing, and XCI assessment may improve clinical evaluation and genetic counseling.
- Glucose-6-phosphate dehydrogenase deficiency,
- G6PD gene,
- X-chromosome inactivation,
- Female heterozygous carriers,
- Enzyme activity

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