云南省盈江县傣族孕龄人群 G6PD 缺乏症的常见 基因型筛查及临床特征.

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. [ABSTRACT FROM AUTHOR]