[Associations of red blood corpuscle mean volume and hematocrit with severity of beta-globin gene mutations in beta-thalassemia carriers]

Thalassemia, a heterogeneous disease, is one of the most common single-gene diseases worldwide. The aim of this study was to find associations between hematological indices and severity of beta-globin gene mutations in beta-thalassemia carriers. In this cross-sectional study, 30 beta-goblin gene mutations [beta[+] and beta°] in 1206 unrelated beta-thalassemia carriers were investigated. In addition, their hematological indices, including CBC and electrophoresis results, were determined. The association between genetic findings and hematological parameters [mean corpuscular volume [MCV] and mean hematocrit corpuscular hematocrit [MCH]] were determined using the SPSS software, the statistical test being the t-test. The results indicated that beta[+]-thalassemia carriers had higher MCV and MCH means than beta°-thalassemia carriers. These findings would certainly have practical implications in public health. The results show a significant correlation between two hematological indices and certain types of mutations in beta-thalassemia carriers

[Determination of P53 gene mutations in gastric cancer by PCR-SSCP]

Background and Objective: gastric cancer is the 2nd cause of cancer mortality after lung cancer. Approximately 12% of all cancer death are due to gastric cancer. Tumorgenesis is thought to be a multistep process involving a series of genetic changes in oncogenes and suppressor genes. The most common cancer-related genetic change known in human tumors is P53 mutation, particularly in gastric cancer. This study was done to determine P53 gene mutations in gastric cancer

Materials and Methods: this study was performed on 44 biopsy from patients with gastric cancer during 2002 in 3 hospitals in Tehran. For determination of P53 gene mutations was performed PCR-SSCP methods

Results: the patients group comprised 31 males and 13 females [Average age, 60.8 years Ranging from 34 to 84 years]. 36 cases [81.8%] intestinal type, 5 cases [11.4%] were diffuse type and 3 cases no defined. 44 gastric cancers of gastric tissues were screened for the mutations of P53 gene mutations in exons 5-8 using the PCR-SSCP analysis. After polyacrylamide gel electrophoresis, 9 patients [20.5%] showed an apparent electrophoretic mobility shift between the cancer and other normal samples. One mutation in exon 5 [11.1%], 2 were detected in exon 6 [22.2%], 3 were found in exon 7 [33.3%] and 3 were detected in exon 8 [33.3%]. The mutation rate was 7 of 36 [21.2%] in intestinal type and 2 of [40%] in diffuse type. No significant correlation between P53 gene mutations and age and genus was found

Conclusion: this investigation showed the rate P53 gene mutation [20.5%] in gastric cancer in our society