|
|
|
 |
Search published articles |
 |
|
Showing 2 results for Northwest of Iran
M Bonyadi , A Mohammadi , M Khalajkondori, S Taghavi ,
Volume 15, Issue 2 (7-2015)
Abstract
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.
Methods: A total of 100 women were recruited to form two groups. First one, with a history of recurrent spontaneous abortions (N=50), and the second one, without a history of abortions (N=50). Genomic DNA was extracted from peripheral blood with a commercial kit and PCR-RFLP analysis was used to identify the G22A genetic polymorphism. Fisher's exact test and odds ratio values were used to compare the proportions of adenosine deaminase genotypes and alleles between women with and without a history of recurrent spontaneous abortion (p<0.05).
Results: The frequency of homozygotes (AA) was 2% in control group, whereas no homozygote (AA) was found in the case group. The frequency of heterozygotes (AG) was 20% in control group and 8% in the case group (p<0.05). The frequency of homozygotes (GG) was 78% in control group and 92% in the case group (p<0. 05). A significant increase in the frequency of AG genotype in controls (p=0.014, OR=0.348) relative to women with the history of RSA demonstrates the protective effect of AG genotype in controls.
Conclusion: The data suggest that women carrying the G22A polymorphism (ADA*2 allele) and AG genotype which is associated with the lower enzymatic activity are better protected against recurrent spontaneous abortions.
Farhad Salehzadeh, Afshan Sharghi, Atena Moteyagheni, Saeid Hosseini Asl, Mahsa Mottaghi, Sepehr Sarkhanloo,
Volume 19, Issue 1 (4-2019)
Abstract
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.
|
|
.png)
.png)
