Detection the MLH3 gene C2531T mutation in oligospermia and azoospermia by 4P-ARMS-PCR / 基础医学与临床

ABSTRACT

Objective Analysing the potential relationship of mismatch repair protein MLH3 gene C2531T mutation with oligospermia and azoospermia cases. Methods Using MLH3 C2531T as an example to establish a method of tetra-primer amplification refractory mutation system-PCR (4P-ARMS-PCR); We chose 81 cases of oligospermia, azoospermia patients and 80 normal controls, detecting MLH3 C2531T both using 4P-ARMS-PCR and PCR-RFLP; randomly to select 20% samples to sequence. Results The results suggested higher prevalence of CT + TT genotypes in patients as compared to the controls and association of T allele with disease (P <0. 01); PCR-RFLP results , 4P-ARMS-PCR results and sequence results are fully consistent. Conclusion 4P-ARMS-PCR can be a fast, easy-operating and accurate technology for detection of gene mutation of single nucleotide polymorphism (SNP) ; MLH3 C2531T polymorphism is related to oligospermia and azoospermia.