Correlation Analysis Of Several One-Carbon Metabolism Genes And Male Abnormal Sperm Amount In Northeastern China

In recent years,the incidence of male reproductive health condition are not optimistic,it has been one of great problem in reproductive health and medical research field.Male sperm amount abnormality is one of the familiar causes of male infertility which typified by azoospermia or oligozoospermia,leading to male partner's pregnancy rate significantly decreased,even infertility.At present,with the improvement of medical technology,chromosomal karyotypes have been taken into the conventional genetic male sterility by most hospitals,but genes associated with male sperm production process are about more than 2000.More male sterility gene screening research will not only help to reveal the pathogenesis of male infertility,but also provide certain scientific basis for the diagnosis and the treatment of male infertility.With the project of human genome completed,the relationship between single nucleotide polymorphism and susceptibility to disease has become a topic of general interest in recent years.More and more scientists are looking for finding the SNPs genetic markers associated with diseases including congenital diseases,chronic diseases,monogenic and polygenic diseases,etc.It is also an effective method for identification of male sterility gene in recent years.MTHFR,MTRR,MS,MAT2A and DHFR are key enzymes of one carbon unit metabolism and influence nucleotide biosynthesis and methylation reaction,a high affinity folate-binding protein has been indentified in human semen.These finding suggest an assocation between folate status and male reproductive function,meanwhile folic acid play important roles in hone carbon unit metabolism.Folic acid is indispensable in nucleotide synthesis and the process of homocysteine into methionine,the above way interrupt can affect DNA synthesis and chromosomes methylation,leading to malnutrition and disease.In order to study the pathogenesis of idiopathic male infertility,provide powerful clinical gist for the diagnosis and the treatment of male infertility.This project focus on the relationship between several kinds of one carbon unit metabolism genes single nucleotide polymorphisms,mRNA expression and male infertility.After screening,several common SNPs of MTHFR?MTRR?MS and MAT2A were selected,and the correlation between the genotypes and azoospermia were explored,and the level of total serum homocysteine and folate were assayed by chemoluminescence immunoassay.Sperm count and motility of sperm were also determined.The relationship between the following one carbon unit metabolisms related genes(MTHFR,MAT2A,MTRR,MS and DHFR)mRNA expression and male sterility were also studied in this experiment.The results showed there have possible correlation between rs1801131,rs1801133 in MTHFR and rs1078004,rs2043675 in MAT2A with male azoospermia in northeast China.In azoospermia patient,total homocysteine level variety section is 11.31±1.75?M/l,folic acid variety section is 5.58±2.31 ng/ml.They are all within normal limits.Sperm count and motility of sperm in control group were 83.87±34.22×10~6/ml,66.51±19.26%,sperm count and motility of sperm in azoospermia patients are 0.Compared with the control group,results show that above gene expression are low in the case group indicated by RT-PCR results,the difference are statistics significance(P<0.05).This study concluded that MTHFR,MAT2A,MTRR,MS may be associated with oligozoospermia and azoospermia,and more samples are also need.They will provide scientific basis to male infertility pathogeny,diseases diagnoses and treatment by the correlation analysis of pathopoiesis candidate gene in oligozoospermia,azoospermia in Northeastern China.