[Molecular analysis of alpha globin gene deletions among patients with microcytic hypochromic anemia in Kermanshah-Iran]

The majority of alpha-thalassemi mutations are deletions of one or both alpha- globin genes. Since the Iranian populaion is a mixture of different ethnic groups, frequency and distribution of globin mutations in various regions of the country need to be clarified. The aim of this study was to determine the common alpha globin gene deletions among individuals with hypochromic microcytic anemia in Kermanshah province. Following the initial evaluation, 92 patients [47 women and 45 men] were found as microcytic hypochromic [MCV < 80 fl and MCH< 27 pg] anemia and selected for this study. All samples were analyzed for detection of four alpha-gene deletions [-alpha3.7,-alpha4.2,- [alpha] 20.5 and --MED] by GAP-PCR technique. After amplification, 10microl of PCR product was electrophoresed through 1.2% agarose gel and bands were visualized by staining gel in ethidium bromide solution and photographed under a UV transilluminater. 45 patients had -alpha 3.7 single gene deletion. In patients with -alpha3.7 deletion, in both homozygous and heterozygous states, MCH was lower than normal ranges. However, the percent of HbA2 was in normal range. In this study, other common deletional mutations, including - [alpha]20.5, -alpha4.2 and --MED were not found. The results of persent study showed that the frequency of -alpha3.7 single gene deletion among patients with microcytic hypochromic anemia in Kermanshah province was 48.9%

[Methylation of the GSTP1 gene promoter in colorectal cancer]

Transcriptional silencing of tumor suppressor genes and tumor related genes like GSTP1 by methylation of promotor region CpG island is believed to be an important mechanism in tumorigenesis. The GSTP1 gene encodes the enzyme glutathione S-transferase Pi which defends the cells against oxidative damage and electrophilic carcinogens. To gain insight into the role of epigenetic silencing of GSTP1 in colorectal cancer, its methylation was investigated in the blood samples obtained from tumor tissues [n=37] and the adjacent normal tissues [n=29] of patients with colorectal cancer as well as the blood samples taken from control subjects [n=42] by PCR after using methylation - sensitive restriction endonuclease ACCI. Methylation of GSTP1 was detected in the blood samples of control and blood, adjacent normal tissue and tumor tissue groups at 9.52%, 10.81%, 17.24% and 62.1% in respectively. There was a significant association between mehtylation of the GSTP1 in tumor tissues and the risk of colorectal cancer compared to adjacent normal tissues [OR= 7.86; 95% CI= 2.316 - 26.633]. The difference between methylation of the GSTP1 in the blood samples of case and control group [OR= 1.121; 95% CI= [0.26 - 4.84] was not statistically significant. Our findings indicate that methylation of the GSTP1 promotor may be detected in the tumor tissues. This could serve as a molecular diagnosis tool in detection and treatment of colorectal cancer