Objective To investigate the incidence and common gene mutations of glucose-6-phosphate de-hydrogenase(G6PD)deficiency in Huizhou area,and to provide experimental basis for the screening,diagno-sis,genetic counseling and prevention of the disease in this area.Methods A retrospective analysis was per-formed on the clinical data of 29 543 subjects who underwent G6PD enzyme screening in the hospital from June 2021 to December 2023,and a total of 276 people with G6PD enzyme activity below the reference value or in the critical range completed G6PD gene testing at the same time.The G6PD enzyme activity was detected by G6PD/6GPD ratio method.The G6PD gene mutation was detected by multicolor probe melting curve method in subjects with positive(or borderline positive)enzyme activity screening.The incidence of G6PD de-ficiency and the frequency of various gene mutations were analyzed.Results A total of 2 099 out of 29 543 specimens were positive for G6PD enzyme screening,and the overall detection rate of G6PD deficiency was 7.10％(2 099/29 543).The detection rate of male was 9.53％(1 357/14 234),and the detection rate of fe-male was 4.85％(742/15 309).The detection rate of G6PD deficiency enzyme screening in males was higher than that in females,and the difference was statistically significant(P＜0.05).The abnormal enzyme activi-ties of males were mainly concentrated in class Ⅱ,accounting for 92.11％(1 250/1 357).The abnormal en-zyme activity in females was mainly concentrated in class Ⅲ,accounting for 66.85％(496/742).In the speci-mens with abnormal activity of class Ⅰ and Ⅱ enzymes,the detection rate of male was 93.52％(1 269/1 357),and the detection rate of female was 33.15％(246/742).The detection rate of male was significantly higher than that of female(P＜0.05).In the specimens with abnormal class Ⅲ enzyme activity,the detection rate of female was 66.85％(496/742),which was significantly higher than that of male 6.49％(88/1357),and the difference was statistically significant(P＜0.05).A total of 276 specimens were tested for G6PD enzyme ac-tivity and gene mutations at the same time,and 272 specimens were positive for gene mutations,and the re-maining 4 specimens were negative for gene mutations.The overall detection rate of gene mutations was 98.55％(272/276).In patients with abnormal or borderline enzyme activity,the detection rate of gene mutation increased from 87.50％to 100％with the decrease of enzyme activity.When the enzyme activity of male was class Ⅰ or Ⅱ,the detection rate of gene mutation was 100.00％.When the female enzyme activity was classⅡ or Ⅲ,the detection rate of gene mutation was 100.00％,and no female specimens with class Ⅰ enzyme ac-tivity were found.G6PD gene mutation analysis showed that there were 10 single mutations and 5 compound mutations in 276 specimens.The gene mutation sites were mainly concentrated in c.1376G＞T,c.1388G＞A and c.95A＞G,accounting for 84.93％.The female gene mutation was mainly heterozygous,accounting for 96.33％(105/109).In this study,two male specimens with significantly decreased G6PD enzyme activity(ra-tio 0.10-0.20)and no common gene mutations were detected,and further sequencing analysis showed that both of them were hemizygous mutations c.1311T＞C and c.1365-13C＞T.Conclusion The overall detection rate of G6PD deficiency enzymological screening in Huizhou is 7.10％.c.1388G＞A,c.1376G＞T and c.95A＞G genotypes are the most common types of G6PD deficiency gene mutations in Huizhou.
维普
万方数据