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Background & objectives: The spontaneous abortion, loss of the fetus until the twentieth week of pregnancy, is one of the most common medical problems in reproductive age. Approximately 15 to 20 percent of all clinically recognized pregnancies lead to abortion. Failure in pregnancy involves economic costs, physical and mental problems for the family and the society. Recurrent spontaneous abortion is a multifactorial phenomenon and this study analyzed chromosomal abnormalities and the prevalence of consanguineous marriages in parents with recurrent spontaneous abortions in Ardabil province.
Methods: A total of 350 patients with at least two spontaneous abortions were analyzed using GTG-banding cytogenetic technique.
Results:  Parental chromosomal abnormalities were found in 18 cases (10.28% of couples). Most of abnormalities were structural (72.2%). chromosomal aberrations were found in 10 (55.6%) females and 8 (44.4%) males. Translocations were the most common chromosomal abnormalities (55.6 %) diagnosed in this study. Also, there was a significant correlation between recurrent spontaneous abortion due to consanguineous marriage and chromosomal abnormalities (p<0.05).
Conclusion: According to the significant correlation between recurrent spontaneous abortion and chromosomal abnormalities in this study and previous studies, and also the high rate of consanguineous marriages in Ardabil province population, analysis of chromosomal abnormalities is necessary after genetic counseling for both parents with recurrent spontaneous abortions.
Keywords: Recurrent Spontaneous Abortion; Chromosomal Abnormalities; Consanguineous

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Background & objectives: MEFV gene has a major role in Familial Mediterranean Fever (FMF) as an auto-inflammatory disorder. FMF is most often seen in the people of the Mediterranean area. Considering the significant role of the MEFV gene in many rheumatologic diseases and even non-rheumatologic disorders, it is necessary to identify different variations of these mutations in the healthy and normal population of this area.
Methods: 224 healthy people entered into this study. The blood samples were screened for the 12 most common MEFV gene variants according to manufacturer’s instructions. (FMF Strip Assay, Vienna lab, Vienna, Austria)
They filled a questionnaire containing the required information. All patients were initially evaluated for the FMF symptoms and signs in themselves and their first-degree relatives based on clinical criteria. Chi-squared test and t-test were employed for statistical analysis using SPSS ver.24.  
Results: Among 224 cases, 113 cases (50.4%) were male, and 111 cases (49.6%) were female. MEFV mutations were detected in 57 patients (25%) of them, 28 cases were male (49.1%) and 29 cases were female (50.9%). The most frequent mutations were E148Q (18.3%, 41cases), followed by P369S (3.1%, 7 cases), V726A (2.2%, 5cases), A744S (1.3%, 3cases), F479L, M694V and R761H (0.8%, each 2 cases), and eventually K695R (0.4%) respectively. Some mutations such as M694I, M680I (G/C), M680I (G/A), I692del were not seen in these samples. There were compound heterozygous mutations of E148Q/P369S, E148Q/V726A, E148Q/P369S, and P369S / F479L in normal population without any findings in favor of FMF.
Conclusion: Twenty-five percent of the normal population of the northwest of Iran carrying a heterozygous variant of the MEFV gene, E148Q (18.3%) as a most common mutation, which can be considered as a normal variant in the healthy population. The presence of M694I, M680I (G/C), M680I (G/A) and I692del mutations in the normal population can be interpreted with cautiously, while particular compound heterozygous mutations can be considered as normal variants.