ĐÁNH GIÁ ẢNH HƯỞNG CỦA ĐA HÌNH RS1048943 TRÊN GEN CYP1A1 VÀ ĐỨT GÃY DNA TINH TRÙNG

Abstract

Sperm DNA fragmention (SDF) affects directly to the reproductive perfomance of men. Sperm DNA fractures (SDFs) directly affect male fertility. Several studies have shown that oxidative stress (OS) has the ability to damage cell membranes and sperm DNA.  The single nucleotide polymorphism (SNP) rs1048943 of the CYP1A1 gene is thought to be associated with alterations in genes encoding xenobiotics metabolizing enzymes leading to the uncontrolled production of ROS (Reactive Oxygen Species) that disrupts the metabolism of xenobiotics and leads to oxidative stress. Objectives: i) To optimize Tetra-ARMS PCR technique to determining SNP rs1048943 in patients with sperm DNA fragmentation;  ii) To determine the allele and genotype frequencies at the SNP rs1048943, analyze the relationship between the SNP rs1048943 on the CYP1A1 gene and sperm DNA fragmention in Vietnamese subjects.  Subjects and methods: The patient's sperm sample was assigned a DFI test to determine the index of sperm DNA fragmention (halosperm). Variant rs1048943 was identified using the Tetra-ARMS PCR method combined with Sanger sequencing. Results: Tetra-ARMS  PCR  has  been  designed,  and  optimized  to  identify  SNP rs1048943 of CYP1A1 gene in patients with sperm DNA fragmention. The results indicated that SNP rs1048943 followed Hardy-Weinberg  equilibrium  (p>0.05).  However,  no association was established between the polymorphism and  sperm DNA fragmention  in  the  three  models  (additive, dominant,  and  recessive)  (p>0.05). Conclusion: No association was established between the polymorphism rs1048943 of CYP1A1 gene and  sperm DNA fragmention  in  the  three  models  (additive, dominant,  and  recessive).

Keywords: SDF, OS, SNP rs1048943, CYP1A1, Tetra-ARMS PCR.