Gene Expression Studies
Seyyedeh Shabnam Irankhah; Saied Hoseini-Asl; Mehdi Valizadeh; Firouz Amani
Abstract
Background: Beta-thalassemia is one of the most common genetic diseases with autosomal recessive inherited patterns in the world and is one of the most common diseases in Iran that exists in all age and sex groups. Determining gene mutations in this disease can be effective in controlling and treating ...
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Background: Beta-thalassemia is one of the most common genetic diseases with autosomal recessive inherited patterns in the world and is one of the most common diseases in Iran that exists in all age and sex groups. Determining gene mutations in this disease can be effective in controlling and treating the disease. The present study determined the frequency of polymorphisms of Hinc, RSaI, RDB, and Xmn in patients with beta-thalassemia minor in Ardabil province. Methods: 53 beta-thalassemia patients referred to the genetic department of Imam Khomeini Hospital were studied. Blood samples were taken to determine the type of gene mutation. PCR samples were genetically evaluated to determine genetic mutations using RDB-Sequence-RFLP-Haplotype methods. Results: A total of 53 samples were examined, of which 56.6% were male and the rest were female. The most positive cases in the first and second ranks were related to XmnI and AvaII enzymes with 73.5% and 60.3%, respectively. The most common mutation extracted in the studied samples with 14 cases (26.4%) was IVS2.1. Among the most common mutations extracted by the RDB method was related to IVS 1.2 with 26.4%. Conclusions: The results of the present study showed that the distribution of genetic mutations in the studied samples can be different from other places. Also, by performing targeted genetic counseling, it is possible to control and prevent the disease in the future.
Cell, Organ and Tissue Culture
Afshin Fathi; Manouchehr Barak; Mahshid Damandan; Firouz Amani; Rouhallah Moradpour; Irada Khalilova; Mehdi Valizadeh
Abstract
Glucose-6-phosphate dehydrogenase (G6PD) is one of the most common genetic deficiencies that affect approximately 400 million people worldwide. This study aimed to identify neonates with G6PD deficiency in Ardabil province during 2017-2018. This cross-sectional study was conducted on all term and preterm ...
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Glucose-6-phosphate dehydrogenase (G6PD) is one of the most common genetic deficiencies that affect approximately 400 million people worldwide. This study aimed to identify neonates with G6PD deficiency in Ardabil province during 2017-2018. This cross-sectional study was conducted on all term and preterm newborns in Ardabil Province from April 2018 to April 2019. The sampling method was census and in study duration, 1044 newborns were entered in the study. For each infant, severe hyperbilirubinemia (total serum bilirubin equal or greater than 300 micromol/L) was tested by the diazo method and G6PD was evaluated by Fluorescent Spot Test (FST). Of all infants, 15 (1.4 %) were diagnosed to have G6PD deficiency by FST. The prevalence of G6PD deficiency was significantly in boys higher than in girls (80% vs. 20%, p=0.001). Of all infants, 97 (9.3%) had jaun dice 72 hours after birth that of them 7 neonates (7.2%) had G6PD deficiency. Results showed that the prevalence of G6PD deficiency in this study was less than in other places in Iran that may be because of different ethnicity and demographic features.
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