Study On The Relationship Between PAH Gene Point Mutation And IgG Subclasses Abnormality And Neonatal Diseases

Objective: According to the research of 69110 newborn screening in Weihai from 2013 to 2015,we can analyse the screening rate,and not only find out the differences between Weihai and other districts,but also to analyze the correlation between PAH gene mutation and IgG subclasses and neonatal immune metabolic diseases.It has great value to timely and effective treatment after diagnosis and reduce birth defects.Methods: A total of 69110 newborns were born in Weihai from 2013 to 2015,and parents are agree to accept the newborn screening.The blood samples of these newborns were screened by time-resolved fluorescence technique and tandem mass spectrometry.The incidence of CH,PKU,CAH,G6 PD and IMD in Weihai area and the treatment of children were analyzed retrospectively.At the same time,PCR amplification technique was used to analyze the amplified products of 13 exon of PAH gene in children with PKU.354 of them are HND negative,test the anti-A or B IgG subclasses of this pregnant women and their chidren.As a comparison,we test the anti-A or B IgGsubclasses of 100 normal preganant women and 100 normal new-borns.Results: 1.The average screening rate was 99.71% in the Weihai area from 2013 to 2015.Diagnosed with CH75 patients,the incidence of CH 1/921;diagnosed with PKU 11 patients,the incidence of PKU 1/6283;diagnosed with CAH 5 patients,the incidence of CAH 1/13822;diagnosed with G6PD25 patients,the incidence of G6 PD 1/2764,diagnosed with IMD 12 patients,the incidence of IMD 1/2982.2.The incidence of CH in Weihai area was 1/921 higher than the national average incidence rate of 1/3009,the difference was statistically significant(P<0.01).3.A total of 54 mutations were found in the genetic tests of children with PKU.Among them,E7 was the high frequency region of mutation,and the gene was heterozygous in PAH gene.The PAH gene was closely related to the PKU of neonatal genetic metabolic disease.Children and their parents for genetic testing can be a good guide for their fertility.4.In the pregnant women samples IgG1 and IgG3 of HDN positive is higher than that of HDN negative(p<0.05),in the new-borns samples IgG1 and IgG3 are higher than that of HDN(p<0.05).Conclusions: Weihai newborn screening rate is very high,through the newborn screening means we can do early detection,early treatment.The mutations of mutations in children with PKU were identified by PCR gene method.The high frequency mutation sites were found to be useful for the subsequent detection of PAH gene mutation.At the same time,families with reproductive needs were instructed for pregnancy and Prenatal diagnosis.A quantitative ELISA for measuring IgG subclasses of red blood cell antibodies isolated from the sera of alloimmunized pregnant women and the new-borns may provide a clinical-useful information to complement serological assay,effectively reduce the birth defects.