Study On The Genetic Characteristics Of G6PD Gene Of Han Nationality Newborns In Hunan Province

Objective To study the types of G6 PD gene mutations in neonates of Han nationality in Hunan Province,and to explore the effects of G6 PD mutations on neonatal jaundice.Methods Select 60 neonatal jaundice children with Han nationality G6 PD deficiency who were admitted to Hunan Province in the neonatal department of our hospital as the enzyme deficiency group.Randomly selected 60 patients admitted to the same period to exclude G6 PD deficiency in Hunan Han neonatal jaundice children into the normal enzyme group.Collect relevant clinical data of 120 research subjects and collect venous blood specimens to extract DNA.Sanger technology was used to sequence exons 2-13 of G6 PD gene and some introns in children.The G6 PD gene polymorphism was analyzed,and the characteristics of thermal mutations in different regions were compared.Children with other causes of jaundice in the enzyme-deficient group and normal enzyme group were removed and divided into the group with no other causes 1 and the group with no other causes 2,combined with clinical data to analyze the impact of G6 PD gene polymorphism on neonatal jaundice.Result 1.Analysis of general data: There is no statistically significant difference in the gestational age,birth weight,hospital weight,gender,production method,feeding method and the presence or absence of premature rupture of amniotic fluid in the enzyme-deficient group and the normal enzyme group(P> 0.05).2.This study detected 61 cases of children with G6 PD gene mutation,a total of 12 mutation sites,13 mutation types,common mutation types are c.1376G> T(p.Arg459Leu)(23/61),c.1388 G> A(p.Arg463His)(19/61)and c.1024C> T(p.Leu 342Phe)(5/61).A new mutation site c.227C> T(p.Thr76Ile)was found,and there is no report at home and abroad.Five women with heterozygous mutations were missed during the first G6 PD enzyme activity test.3.There is a statistically significant difference in the common mutations between the Han population in Hunan Province,the Han population in Guangxi Province,the Zhuang and Miao populations,the Li population in Hainan Province,and the Han population in the three southwestern regions(Sichuan,Yunnan,Guizhou)(P <0.05).4.The gene mutation frequency of c.1376G> T locus,c.1388 G> A locus and c.1024C> T locus in the enzyme-deficient group was significantly different from the gene carrying rate of the corresponding population in the gnomAD database(P <0.05).5.There was a statistically significant difference in the peak age of serum total bilirubin and the age of jaundice in group 1 without other etiology and group 2(P <0.05).6.The difference of G6 PD activity at 1376,1388 and 1024 mutations was statistically significant(P <0.05),and the difference between 1024 and 1376 was statistically significant(P <0.05).Conclusions 1.The G6 PD gene mutations of the Han nationality newborns in Hunan Province are common in c.1376G> T(p.Arg459Leu),c.1388 G> A(p.Arg463His)and c.1024C> T(p.Leu342Phe)The mutation site c.227C> T(p.Thr76Ile),this site has not been reported at home and abroad.2.G6PD-deficient neonates have higher peak serum bilirubin than normal-enzyme neonates,and the age of jaundice appears earlier;c.1376G> T(p.Arg459Leu)site enzyme activity is lower than c.1024C> T(p.Leu342 Phe)site.3.The G6 PD screening test may have false negatives.For female children,there is a significant family history and clinical considerations.G6 PD deficiency is highly likely.Even if the enzyme activity is normal,G6 PD genetic testing is still required.