Single nucleotide polymorphisms of DNAM methyltransferase 1 Gene and Gastric Cancer in Iranian patients: a case control study

Gastric cancer is one of the most common malignant tumors in Iran. Hypomethylation and/or hypermethylation of DNA have been described in Gastric cancer and is presumed to be an early event in this process. We hypothesized that Single nucleotide polymorphisms of DNMT1 gene may be associated with the genetic susceptibility to Gastric cancer. 200 patients and 200 controls, both with Iranian origin were studied. Three polymorphisms were genotyped by PCR-RFLP. Allele frequencies and genotypes were compared between the cases and controls. Odds ratios were calculated and the interaction between polymorphisms, age and sex were examined. There was no significant association between DNMT1 polymorphisms and Gastric cancer. We could not show any association between DNMT1 polymorphisms and gastric cancer. Larger sets of polymorphisms and sample sizes are required to test the possibility of association between polymorphisms of this gene and gastric cancer

Association between genetic polymorphism of methylenetetrahydrofolate reductase with non familial Colorectal Cancer in Iranian population

Methylenetetrahydrofolate reductase [MTHFR] is a key enzyme regulating folate metabolism, which affects DNA methylation and synthesis. One of the most important polymorphisms identified in the MTHFR gene is C677T. MTHFR activity is lowered in individuals with 677TT genotype. Using pyrosequencing, we analyzed the MTHFR genotypes in 118 colorectal cancer patients and 189 normal matched controls. Whereas the CC, CT and TT genotypes of MTHFR among the colorectal cancer patients were 51.7%, 28.0% and 20.3% respectively, we were able to find 47.1% of 677CC, 27.0% of 677CT and 25.9% of 677TT in normal controls. An inverse association was observed between the risk of colorectal cancer and TT genotype with the odds ratios [OR] of 1, 0.94 and 0.71 for CC, CT, and TT genotypes, respectively. This association was similar in both sexes, but in patients with high levels of folate intake. Our study corroborates previous findings of an inverse association between MTHFR 677TT genotype and colorectal cancer, especially at high levels of folate

Association between polymorphism of MTHFR gene and non-familial colorectal cancer

Colorectal cancer is one of the most common malignancies in worldwide. Because the gene 5, 10-methylene-tetrahydrofolate reductase [MTHFR] plays a key role in methylation, synthesis and repair of DNA, numerous studies have focused on evaluating the correlation between polymorphisms of this gene and sporadic colorectal cancer. This study was carried out to examine the association of MTHFR gene polymorphism, C677T, with non-familial colorectal cancer in an Iranian population. We analyzed peripheral blood samples of 118 cases of colorectal cancer and 189 controls by pyrosequencing method. Controls were subjects who had been referred to our center during the study period and had revealed normal findings on colonoscopy. We found that frequency of CC, CT and TT genotypes among the colorectal cancer patients were 51.7%, 28% and 20.3% respectively. The figures for controls were 47.1%, 27% and 25.9% respectively. Furthermore, allele frequency T in the cases was 34% and allele frequency C was 66% while allele frequency T in controls was 39% and allele frequency C was 61%. Interestingly we observed a reverse association between risk of colon cancer with 677TT genotype

Autosomal dominant hereditary macrothrombocytopenia in an Iranian family

Thrombocytopenia is the most common hemostatic disease of the newborn. Inherited giant platelet syndromes are a heterogeneous group of rare bleeding disorders. In this paper we describe here a female neonate with autosomal dominant hereditary macrothrombocytopenia. A female neonate was referred to our center due to mucosal hemorrhage [nasal and gastrointestinal bleeding]. Her mother's platelet count was normal. However her father, paternal uncle and two paternal aunts also had severe thrombocytopenia and all of them underwent splenectomy for idiopathic thrombocytopenic purpura [ITP]. Considering all clinical and laboratory findings, autosomal dominant hereditary macrothrombocytopenia was the best diagnosis. It is important to differentiate between congenital and acquired thrombocytopenia to avoid unneeded and potentially harmful therapy. Treatment is not usually necessary, however some patients with hereditary thrombocytopenia may benefit from bone marrow transplantation

Congenital dislocation of the hip in newborns in the city of Mashhad

Developmental dysplasia of the hip [DDH], formerly known as congenital dislocation of the hip [CDH] is a common congenital malformation which occurs worldwide with variable frequencies in respect to the race and geographic distribution. To determine the incidence of DDH, its predisposing factors and the diagnostic value of click for its detection. In a cross-sectional study of over 9-month duration, all of neonates born in the four teaching hospitals of Mashhad were examined during 48 hours after birth by Ortolani test. For all newborns with unstable joints, data regarding maternal history were collected. If clunk was felt on the first examination or click on repeated examinations, sonography was performed for more accurate diagnosis. All infants with definite CDH or unstable hip was referred to orthopedic clinic. A total number of 6576 newborns were examined over a period of nine months. Clunk or click was found in 3% [197 neonates]. Only 10 newborns had CDH by clinical and sonographic findings. Of these, eight had clunk at birth and two had persistent click on repeated examinations. These were finally diagnosed as CDH. Eleven neonates were born in breech position. CDH was bilateral in 60% of patients, and solely left-sided in 30%. The incidence of congenital dislocation of the hip was 1.5/1000. There was a significant association between the first parity and CDH [p<0.05], but not with maternal age. The incidence of CDH in the sample studied [1.5/1000] is similar to other studies reported so far. Many of unstable hips showed no abnormality or click on repeated examinations and were thus of no value in diagnosis of CDH