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 crosssectional 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.
Background and objective: Alpha-thalassemia is one of the most recessively congenital hemoglobin disorders in the world, and is characterized by decreased or absence of alpha globin chains production. Although it has been suggested that the frequency of alpha-thalassemia in Iran is greater than worldwide, its exact rate is unknown. Due to lack of more studies on this topic in this area, the aim of the present study was to determine prevalence and molecular characterization of alpha-thalassemia among newborns in Ardabil Province. Methods: In this cross-sectional study, one thousand newborns were referred for screening of alpha thalassemia at a pediatric unit in Ardabil province between April 2016 and March 2018. Cases with Mean Corpuscular Volume (MCV) <100 fL and Mean Corpuscular Hemoglobin (MCH) < 33 pg were referred for serum Ferritin measurement, Hb electrophoresis and then genetic analysis. Collected data were analyzed by statistical methods such as number, percent and Mean±SD in SPSS version 21. Results:The prevalence of α-thalassemia in studied newborns was 3.3% in Ardabil province. The most common mutation was the 3.7 single gene deletions that were found in 42.4% (14 cases) of newborns with α-Thalassemia. Conclusions: Results showed that, the prevalence of α-thalassemia in Ardabil province was lower than the average rate for the country and the most common mutation was -α 3.7 /αα, which was similar to other places in Iran.
INTRODUCTION MicroRNAs (mi RNAs) are endogenous non-proteincoding short RNAs of 18-25 nucleotides RNAs, have a focus on this stage researches. They are encoded in the genome and are generally transcribed by RNA polymerase II, and exert their effects by associating with a group of proteins termed the 'RNA-induced silencing complex' (RISC). RISC is directed to target mRNAs via imperfect sequence complementarity between the mi RNA and 3ˈ-translated region (3ˈ-UTR) of target mRNAs. In almost all studied examples, the targeting of a transcript by RISC leads to down-regulated gene expression through mRNA cleavage or translation ABSTRACT Background: MicroRNAs (miRNAs) are endogenous non-protein-coding short RNAs of 21-23 nucleotides (Kim, 2005; Bartel, 2004).polymorphism in human pre-mir-146a has been recently implicated in human cancers. Gastric cancer (GC) is the most of common cancers, and is especially common in Ardabil province, located in NorthWest Iran. Single nucleotide polymorphism (SNP)is the most common type of genetic variation in the human genome .polymorphisms in human pre-mi RNA genome lesion modify the processing and/or target selection of human mi RNAs, which are implicated in cell cycle regulation , and thereby play critical roles in carcinogenesis. Pre-mir-146a G/C polymorphism designated rs2910164 is located on chromosome 5, in the stem region opposite to the mature premir-146a sequence. Methods: We performed a hospital-based, case-control study using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method in 100 individuals (50 gastric cancer patients and 50 age and sex matched cancerfree controls). The frequency of genotypes was 9(18%), 17(34%), and 24(48%) among cases and 3(6%), 14(28%), and 33(66%) among controls for C/C, G/C, and G/G, respectively. The 147bp amplified fragment was digested by Sac1 (Thermo science co.). An uncut fragment indicates allele G. However, substitution of C allele by G allele tends to create a Sac1 restriction site. Therefore, C allele is observed by 122bp and 25bp digested products. If the quantity of restriction enzyme used is inadequate, the homozygous may be detected as heterozygote, therefore, some sequenced samples were chosen for evaluating the accuracy of digestion. All the statistical analyses were performed using spss software. Results: The frequencies of pre-miR-146a G/C genotypes in the case groups were significantly different from those in the control groups although clinically CC genotype in patients with gastric cancer incidence was higher than the control groups (18% versus 6%), so this difference was statistically significant (p=0.038). Conclusions: In this study, between the polymorphism of G/C hsa-mir-146a and the risk of gastric cancer in Ardabil province, a significant relationship was found.
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