Given the importance of mismatch repairing genes in keeping the genetic stability in cells, any alterations in their structure or function could generate instability in the genome and predispose the development of oncogenic processes. hMSH2 is the principal gene involved in the post-replicating DNA mismatch repair system. In this study, exon 13 of the hMSH2 gene was analyzed in different neoplasias, leukemias and lymphomas. The aim of our work was to determine the association between the presence of polymorphisms in this region with the development of alterations in the hematological system. The 227 samples including lymphoma, leukemia and myelodysplasic syndromes, where analyzed by PCR-SSCP followed by automated sequencing. A single nucleotide polymorphism was found in 30 individuals. This polymorphism is a T to C substitution at the -6 intronic splice acceptor site of exon 13 of hMSH2 gene [gIVS12-6T > C]. In the lymphoma group the polymorphism frequency found was 0.09, with statistical significant differences (p < 0.01) when compared to the control group. On the other hand, the frequency of the leukemia group was the same of that of the control group (0.05). These findings agree with previous research results of other investigation groups. The results suggest a probable association of the polymorphism with the development of lymphomas but not with leukemia.
Background: Detection of chromosomal abnormalities is crucial in various medical areas; to diagnose birth defects, genetic disorders, and infertility, among other complex phenotypes, in individuals across a wide range of ages. Hence, the present study wants to contribute to the knowledge of type and frequency of chromosomal alterations and polymorphisms in Ecuador. Methods: Cytogenetic registers from different Ecuadorian provinces have been merged and analyzed to construct an open-access national registry of chromosome alterations and polymorphisms. Results: Of 28,806 karyotypes analyzed, 6,008 (20.9%) exhibited alterations. Down syndrome was the most frequent autosome alteration (88.28%), followed by Turner syndrome (60.50%), a gonosome aneuploidy. A recurrent high percentage of Down syndrome mosaicism (7.45%) reported here, as well as by previous Ecuadorian preliminary registries, could be associated with geographic location and admixed ancestral composition. Translocations (2.46%) and polymorphisms (7.84%) were not as numerous as autosomopathies (64.33%) and gonosomopathies (25.37%).Complementary to conventional cytogenetics tests, molecular tools have allowed
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.