Abstract:Thalassemias are a group of recessively inherited genetic disorders mostly common in the Mediterranean, the equatorial and near equatorial regions of Africa and Asia. Large number of mutations cause abnormal globin gene expression and result in complete absence or reduction of globin chain synthesis which lead to thalassemia. β-thalassemia is the result of deficient or absent synthesis of β-globin chains, leading to excess α chains. This study was conducted in order to determine the prevalence of β-thalassemia trait among students of University College of Science and Technology (UCST) in Khan Younis, Gaza Strip-Palestine. Allele Specific PCR (ASPCR) was used to determine the intervening sequence IVSI-6 (T→C) and IVSI-110 (G→A) mutations. The study population consisted of 348 subjects recruited from the UCST (144 males: 41% and 204 females: 59%). Blood samples were collected in EDTA tube for CBC. Mentzer index was calculated for all samples. Blood film was done and stained using Giemza stain. DNA was isolated from 12 samples that had normal RBCs and low MCV and whose Mentzer index was >13. These samples were subjected to Allele Specific PCR in order to detect IVSI-6 (T→C) and IVSI-110 (G→A) mutations. The hemoglobin level in females was found to be about 20% less than the level recorded in males (11.40±1.01 vs 14.30±0.79 g/dl). The results also revealed that there were significant differences in all measured CBC parameters and indices between males and females except that for WBC, RBC, MCHC and PLT. IVSI-6 (T→C) mutation was detected only in two samples and both were heterozygous. IVSI-110 (G→A) mutation was not detected in this study. The present results showed that the case of β-thalassemia carrier have normal RBC, MCH, Hb and normal Mentzer index which could be missed in routine screening test.
Hypertension is a risk factor for coronary heart disease, stroke, and renal failure; resulting from interaction of several genes with each other and with environmental factors. The renin-angiotensin system(RAS) plays an important role in the regulation of blood pressure. Angiotensin-converting enzyme (ACE) is an enzyme of the RAS. ACE ID gene polymorphism has been associated in the pathogenesis of cardiovascular diseases. The objective of this work was to determine the frequencies of the ACE gene alleles D and I and any associations to hypertension risk factors in Palestinian population. Genomic DNA was isolated from 293 subjects who have participated in a case-control study. ACE gene ID polymorphism was analyzed by polymerase chain reaction in 193 hypertension cases and 100 healthy controls. The frequency of ACE genotype were: DD 62.2%, II 6.7% and ID 31.1%,while as in control group the DD frequency is 54.0%, II 4. 0% and ID 42.0%. The frequencies of the ACE D and I alleles of the study population were 0.78 and 0.22for case group, 0.75 and 0.25 for control group respectively. There was no statistically significant difference between the groups with respect to genotype distribution. Furthermore, we did not find any significant difference in the frequency of ACE ID polymorphism in hypertension subjects when stratified by gender (p = 0.61).The results showed that there was no significant association between the ACE ID gene polymorphism and hypertension in Gaza strip.
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