ABSTRACT
Background: blighted ovum is one of the most common reasons for abortion during the first three months of pregnancy. Manganese superoxide dismutase [MnSOD] is an important antioxidant enzyme in the human immune system. The gene is located on 6q25 chromosome and acts on mitochondrial matrix. In the case of mutation or inactivity of this enzyme, mitochondrial and nuclear DNA will severely be destructed. The most common polymorphism of its gene is Val16Ala
Objective: the aim was to investigate a possible mutation in pregnant women who had abortion during the first trimester of pregnancy due to blighted ovum
Materials and Methods: in this case-control study, 34 women were entered as the case and control groups, respectively. Genome DNA was extracted from saliva samples and its genotype was determined using Tetra-primer amplification refractory mutation system polymerase chain reaction technique
Results: in the case group, 16 [48%] cases had Val/Val genotype, 17 [50%] were heterozygote and had Val/Ala genotype, and 1 [2%] had Ala/Ala genotype. Among controls, 7 [22%] items had Val/Val genotype, 6 [17%] had Val/Ala genotype, and 21 [61%] had Ala/Ala genotype. The frequency of TT, CT, and CC genotypes was 48%, 50%, and 2% in case group and 22%, 17%, and 61% in control group, respectively. Statistical analysis revealed a significant relationship between Val16Ala polymorphism of MnSOD gene and blighted ovum [p= 0.0003]
Conclusion: it has concluded that a significant relationship exists between Val16Ala polymorphism of MnSOD gene and blighted ovum
ABSTRACT
Genetic susceptibility, is considered to be involved in neurodegenerative diseases such as Alzheimer's disease [AD] and Parkinson's disease [PD]. Despite the fact that many susceptibility genes for AD and PD have been considered, the most probable genetic risk factor which has been taken into consideration is Apolipoprotein E genotype located on chromosome 19q, APOE is the gene widely considered to be a susceptibility gene for neurodegenerative diseases. This study is to investigate the association of APOE polymorphism with AD and PD. In this case control study we examined association of an APOE gene polymorphism [rs121918398] with AD and PD in Iranian population. The study included 100 AD patients, 100 PD patients and 150 healthy volunteers. An informed consent was obtained from all participants. Genomic DNA was extracted from peripheral blood leukocyte. Genotypes were determined by PCR and restriction fragment length polymorphism [RFLP] by Hha1 restriction enzyme. Sequencing of PCR products was carried out by Fazabiotech Company according to Sanger method using ABI 3730XL Capillary Sequencer. Statistical analysis was performed using the MedCalc program. The prevalence of genotype frequencies of the APOE A/A, A/G, G/G were 16%, 34% and 50% in AD subjects, 14%, 32%, 54% in PD patients and in healthy volunteers were 15%, 39% and 96% respectively. Statistical analysis showed no significant difference between genotype frequencies of AD and those of control subjects [P < 0.05]. Moreover, according to statistical analysis, the genotype frequencies of APOE in PD subjects and control group did not significantly differ. This is the very first time that the association of this polymorphism [rs121918398] with AD is being reported nevertheless, there is no evidence that APOE variant is associated with PD. Accordingly, genotype alteration of A8390>G can't be related to AD. So, this polymorphism plays no pathogenic role in the PD and AD patients in Iranian population