Background and Objectives : Familial Mediterranean Fever, an autosomal recessive disorder, is the most common and well known periodical fevers syndrome. Disease is mainly prevalent among non-Ashkenazi Jews, Arabs, Turks and Armenia. According to the geographical location of North-West of Iran, neighboring with two high risk FMF population (Turkey and Armenia), the prevalence of FMF in this region of Iran is not unlikely. The aim of this study was to estimate the carriers rate of FMF common mutations in healthy control people. Results can be potentially useful to estimate prevalence of disease.

  Methods : Randomly 200 samples from healthy people [non-FMF] from North-West of Iran selected. After taking consent, DNA was extracted from blood samples of these groups. Then mutations were evaluated using ARMS-PCR and RFLP-PCR techniques.

  Results : from 400 studied alleles, 44 and 7 mutant alleles were found for E148Q and V726A respectively. For 2 other mutations, no mutant alleles were found. The total allelic frequency for these four common mutations was 0.132. The carriers rate was 23.4%.

  Conclusion : This study showed that E148Q has high mutation frequency relative to other mutations in North-West of Iran.

Background & objectives: Recurrent spontaneous abortion (RSA) is defined by two or more consecutive miscarriages before 20 weeks of gestation. Adenosine deaminase (ADA) is an enzyme of purine salvage pathway and has two important isoenzymes ADA1 and ADA2. The adenosine deaminase G22A polymorphism (ADA*2) increases the level of adenosine. Adenosine may play a protective role against recurrent spontaneous abortions, since it regulates blood flow into the uterus and placenta. In consideration of the effect of decreased enzymatic activity of adenosine deaminase G22A polymorphism on adenosine levels we evaluated the protective effect of ADA*2 allele against recurrent spontaneous abortions in north-west of Iran. 

Background & objectives: Recurrent miscarriage (RM) occurs in 1–3% of couples attempting to bear children. Thrombophilia is one of the suspected causes of recurrent miscarriage. The factor XIII makes the clot stable at the end of coagulation cascade. The polymorphism G103T of factor XIII gene is the most common polymorphism that affects F XIII activity. We aimed to study the possible association of FXIII gene polymorphism (V34L) with recurrent miscarriage among patients in Northwest of Iran.

Methods: The study groups consisted of 70 patients with two or more consecutive miscarriages. The control group included 50 women with at least two successful deliveries and no history of pregnancy loss.  DNA from both groups analyzed for carrying mutation of FXIII by PCR-RFLP. The  test used for statistical analyze.

Results: Two patients (%2.85) in the case group were homozygote (TT) for 34 Leu mutation whereas no homozygote (TT) was found in control group (p>0.05). 19 patients (%27.1) in the case group and 13 women (%26) in the control group were found to be heterozygote for G103T polymorphism (p>0.05). No significant difference was observed between patients with RPL and healthy women for G103T mutation.

Conclusion: No statistically difference was observed between case and control group.

Background & objectives: Age-related macular degeneration (AMD) is a disease affecting the central vision and causing irreversible blindness in aging patients. AMD is a complex disease caused by the actions and interactions of multiple genes and environmental factors. Genomic region at chromosome 10q26 may have a bigger role in susceptibility to AMD. Age-related maculopathy susceptibility 2 (LOC387715/age-related maculopathy susceptibility 2(ARMS2)) gene at 10q26 is associated with the risk of AMD. Here we studied (A69S) rs10490924 polymorphism of LOC387715 gene in AMD patients from East Azerbaijan province of Iran.

Methods: In this case-control study, the association of G>T in LOC387715/ARMS2 (A69S) rs10490924 polymorphism was investigated in 63 patients suffering from AMD and 150 healthy age, sex and ethnicity matched unrelated people as control group from northwest of Iran by polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP).

Results: Statistical analysis showed high frequency of TT genotype in AMD patients (34.92%) compared to those of control group (6.67%), (p value=0.000 OR=11.9). The frequency of heterozygotes (GT) was 32.67% in control group and 38.1% in the case group (p=0.422). The frequency of homozygotes (GG) was 60.66% in control group and 26.98% in the case group (p=0.000). Genotype analysis of LOC387715 like other studies in Chinese, Japan and a population in Iran revealed significant association in distribution between patients and controls.

Conclusion: The data suggest that individuals from East Azerbaijan carrying TT genotype in LOC387715 have 11.9 times more risk of developing AMD compared to those carrying non-TT genotypes.