Incidence and gene mutation analysis of neonatal glucose-6-phosphate dehydrogenase deficiency in 3 cities of Anhui Province
Objective To investigate the occurrence and gene mutation characteristics of glucose-6-phosphate dehydrogen-ase(G6PD)deficiency in newborns in 3 cities of Anhui Province.Methods Selection of a portion of medical institutions with a large number of delivery in Anqing City,Hefei City,and Fuyang City,respectively.31 480 samples of neonatal disease screening were collected for G6PD deficiency screening.Genetic testing was performed on suspicious samples.The incidence rate of G6PD deficiency and the distribution of gene mutation sites in 3 cities of Anhui Province was analyzed by SPSS 22.0 software.Results 28 cases of male hemizygous variation and 29 cases of female heterozygous variation were detec-ted.No female homozygous variation was found.The overall incidence rate of G6PD deficiency in 3 cities of Anhui Province was 0.089％,and the gene carrying rate was 0.18％.A total of 7 mutation types were found,among which the proportion of four gene mutation sites,c.95A＞G,c.1376G＞T,c.1388G＞A,and c.1024C＞T,constituted 82.4％of the loci.The G6PD enzyme activity in the male hemizygous variation group was lower than that in the female heterozygote variation group(Z=-0.605,P＜0.001).Conclusion The incidence rate of G6PD deficiency is relatively high in 3 cities of Anhui Province.It is recommended to include G6PD deficiency as a routine screening disease in newborn genetic metabolic disease screening.
NETL
NSTL
万方数据
