Genotype distribution of methylenetetrahydrofolate reductase A1298C and C677T gene in Indonesian infertile men.

Background: Methylenetetrahydrofolate reductase (MTHFR) is an important enzyme of folate and methionin metabolism, making it crucial for DNA synthesis and methylation. Variants of MTHFR C677T and A1298C gene result in reduced plasma folate levels and increase the susceptibility to spermatogenic arrest. This research aims to analyses MTHFR C677T and A1298C gene polymorphism in Indonesian infertile men with azoospermia and oligozoospermia. Methods: This cross sectional study takes 3 mL of blood from 150 infertile men with oligozoospermia and azoospermia. MTHFR gene is analyzed using polymerase chain reaction technique (PCR) with specific primers. PCR-RFLP analysis of the MTHFR gene using restriction enzymes MboII and HinfI determines allotypes, both of SNP A1298C and C677T in oligozoospermia and azoospermia in Indonesian population. Results: The results show that the distribution of allotypes of MTHFR gene SNP A1298C and A677T is not significantly different (p>0.05) between patient groups with oligozoospermia and azoospermia. Conclusion: MTHFR gene polymorphisms, both of SNP A1298C and C677T are not associated with male infertility in Indonesian men including patients with severe oligozoospermia and azoospermia.

Genotype distribution of T cell receptor β gene in Indonesian nasopharyngeal carcinoma patients.

Background: Nasopharyngeal carcinoma (NPC) is a multifactorial genetic disease, characteristically endemic and shows considerable differences in its geographical distribution. Besides infection with EBV, genetic factors such as polymorphisms of TCR-β gene contribute to the incidence of NPC. This study investigates the association of TCR-β gene polymorphisms with individual susceptibility to develop NPC in Indonesian ethnic groups. Methods: The study was carried out by the PCR-RFLP method using Bgl II restriction enzyme to digest TCR-β gene. The PCR-RFLP analysis of TCR-β gene was used to determine allotypes of TCR-β gene in NPC patients and control among ethnic Chinese and indigenous groups in the population of Indonesia. Results: The results indicate that the distribution of TCR-β gene allotypes between NPC patients and controls are not significantly different (p > 0.05); however, the frequency of A allele tends to increase in NPC patients. The distribution of TCR-β gene allotypes between Chinese ethnic group was not signifi cantly different from indigenous groups (p > 0.05). Conclusion: The distribution of TCR-β gene allele between NPC group and control groups showed no difference. The distribution of TCR-β gene between ethnic Chinese and indigenous groups showed no difference. Polymorphisms of TCR-β gene are not associated with NPC and ethnic groups in Indonesian population.