ABSTRACT
Introduction: Multiple sclerosis [MS] is a chronic inflammatory demyelinating disorder of the central nervous system with various degrees of axonal damage. The TNF-related apoptosis inducing ligand receptor [TRAIL-R] might be playing an important role in the pathogenesis of MS. The objective of our study was to evaluate the association of two common polymorphisms is located in the TRAIL-R1 and TRAIL-R2 gene, in the pathogenesis of MS
Methods: We genotyped two single nucleotide polymorphisms in particular regions with single strand conformation polymorphism [SSCP] and Results obtained from the sequence of some samples, were analyzed using DNAMAN software. DNA was extracted from whole blood using the salting-out procedure. The distribution of genotype frequencies was analyzed using Pearson's x2 test. Statistical significance was defined as p < 0.05
Results: No Significant differences in SNP rs4872077 were found between the PRMS and PPMS groups and No association was found between the genotype status of the rs1001793 and rs4872077 polymorphisms and the age at onset, disease duration, EDSS
Conclusion: Our study suggests no association between TRAILR polymorphisms and MS Disease. Nevertheless, this polymorphisms does not appear to be a severity marker of the disease, neither modifying the clinical progression of MS nor its therapeutic response
ABSTRACT
Chronic myeloid leukemia [CML] is a myeloproliferative disease. The cytogenetic hallmark of CML is Philadelphia [Ph] chromosome. This study aimed to diagnose suspected CML patients, to monitor CML patients under therapy using cytogenetic and fluorescence in situ hybridization [FISH] techniques to analyze their bone marrow [BM] and peripheral blood [PB] samples, and finally to compare their obtained results for both specimens. This study was conducted during one-year period [2012-2013]. The participants were recruited from the Hematology and Oncology Clinic of Shahid Gazi [Emam Reza] Hospital of Tabriz University of Medical Sciences, Tabriz, East Azerbaijan Province, Iran. We analyzed 90 samples from 60 suspected CML patients [30 BM and 60 PB samples]. All samples were analyzed using G-banding, 5 samples using dual fusion FISH [DF-FISH] probes, as well as 30 samples using both FISH and G-banding. Among the 90 analyzed samples of 60 patients, 25 [41.66%] were Ph+ using karyotyping, whereas five cases were not analyzable, so FISH was applied and the results confirmed that only two individuals were BCR-ABL+. In the comparison between 25 BM and 25 PB samples using karyotyping, 15 [60%] and 10 [40%] were ph+, respectively. The comparison of FISH and karyotyping on 30 samples showed that 9 [30%] and 8 [26.66%] were Ph+, respectively, and only 18.18% of Ph+ patients showed atypical patterns. In the comparison between BM-cytogenetic and PB-interphase-FISH [I-FISH], BM-cytogenetic was more reliable than PB-I-FISH in detecting Ph. Our data demonstrate that FISH analysis is a rapid, reliable and sensitive technique. The comparison between BM and PB showed that PB can not be replaced by BM, even in detecting by FISH
ABSTRACT
Too much diversity and ever increasing number of genetic disorders appear as a big challenge in coming future. One of the main sources of genetic disorders is the consanguineous marriages which are, unfortunately very common in our society. In order to prepare ourselves to accept the challenge, the first step is to get complete information of their prevalence and their risk factors. The study was made during 2003-2007 in Tabriz city of Iran. We selected 6000 families and a complete data was obtained on a questionnaire comprised of information regarding marital ages, number of pregnancies, type of delivery, ratio of consanguineous and non consanguineous marriages jobs of parents... etc and their effect on child malformations. Consanguineous marriages of all types were related with increased congenital malformations [with ratio 43/1000 for consanguineous marriages and for non consanguineous marriages 28/1000]. Mother age less than 18 and more than 35 particularly was accompanied with increased malformations while education of mother came out to be inversely related to congenital malformation. Increased stillbirths, consanguineous marriage and malformations, especially of musculoskeletal system require new planning on national level to control and aware people of the consequences of consanguineous marriages