In developed countries deafness has a genetic cause in over 60% of the cases. Contrastingly, in Brazil, it is estimated that only 16% of all deafnesses are caused by genetic factors. Among hereditary hearing deficiencies, approximately half is caused by mutations in the Gap Junction Protein Beta-2 (GJB2) gene, which encodes the protein Connexin 26 (Cx26). There are four mutations in this gene that present high prevalence in specific ethnical groups, namely, 35delG, 167delT, 235delC, and W24X. The 35delG mutation is the most frequent one, occurring in homozygosity or in compound heterozygosity with mutations in the GJB2 and GJB6 genes. This study aims to determine the prevalence of GJB2-35delG, GJB2-167delT, GJB2-235delC, GJB2-W24X, del (GJB6-D13S1830), and del (GJB6-D13S1854) mutations in patients with nonsyndromic deafness in the Espirito Santo State, Brazil. A total of 77 individuals were evaluated, from which 88.3% presented normal genotypes for all analyzed mutations, 1.3% were compound heterozygotes for 35delG-GJB2/D13S1830-GJB6, 1.3% were compound heterozygotes for 35delG/D13S1854-GJB6, 3.9% were homozygotes for the 35delG mutation and 5.2% were heterozygotes for 35delG/GJB2. The frequency of mutant alleles 35delG/GJB2, del (D13S1830/GJB6), and del (D13S1854/GJB6) was 7.8, 0.65, and 0.65%, respectively. Mutations 167delT, 235delC, and W24X were not detected. Determining the prevalence of specific mutations related to inherited deafness in a population can contribute to the development of more efficient and affordable molecular diagnostic protocols, and help in the genetic counseling of patients and their families.

We concluded that MTHFR C677T, MTHFR A1298C and CBS 844ins68 polymorphisms were not associated with OSCC risk in southeastern Brazilians; however, we suggest a prognosis effect associated with MTHFR C677T and A1298C polymorphisms in OSCC.

Master's degree, professor at the Sao Pedro Integrated Faculties (Faculdades Integradas São Pedro), AEV/FAESA and doctoral student in biotechnology, RENORBIO/UFES. 2 Graduated in biological sciences, researcher. 3 Graduated in biological sciences, researcher. 4 Graduated in biological sciences, researcher. 5 Doctoral degree, research and outreach coordinator at the Sao Pedro Integrated Faculties, AEV/FAESA. Sao Pedro Integrated Faculties (AEV/FAESA).

The CYP2C19*2 polymorphism is the result of a point mutation leading to an alternative splicing defect, generating an enzyme with a reduced function. The enzyme CYP2C19 is responsible for the activation of the prodrug Clopidogrel and the loss of its function leads to an increase in platelet aggregation. We compared the ARMS-PCR (Amplification Refraction Mutation System) and RFLP-PCR (Restriction Fragment Length Polymorphism) to determine which of the techniques was more efficient for identifying the CYP2C19*2 polymorphism. We analyzed 200 samples from patients with atherosclerosis and 100 samples from a control group, free from the disease. The polymorphic allele was not observed in any of the samples analyzed by the ARMS-PCR technique, but was present in more than 70% of the samples when analyzed by RFLP-PCR. Thus, RFLP-PCR generated more satisfactory results for the analysis of CYP2C19*2 polymorphism, and it should be used, despite the lower cost of ARMS-PCR, as the latter did not detect this polymorphism.

ABSTRACT.Scientometrics is a quantitative evaluation of scientific and technological activities. The main objective is to point the number of methodologies used in scientific studies or even the structure of several research centers. This type of metric study belongs to the area of sociology of scientific knowledge. It covers quantitative analyzes of scientific activities through the use of mathematical and statistical techniques for the development of the study. A literature review was conducted using the Genetics and Molecular Research (GMR) database. GMR is a fully electronic journal available at no cost to readers through the Internet at http://www.geneticsmr.org. We performed a quantitative analysis regarding genetic polymorphisms on the GMR scientific production between 2009 and 2013. We used the keywords polymorphism AND genetics OR molecular marker in order to conduct the literature survey. We found 423 articles related to genetic polymorphism and 87% were original articles. Six countries account for about 89% of publications and China is responsible for 56% of all publications. Moreover, the number of papers grew each year, from 3.8% in 2009 up to 35.5% in 2013. The organisms most studied in those articles were humans (61.2%). Techniques such as sequencing, RFLP (Restriction Fragment Length Polymorphism), SSCP (single-strand conformational polymorphism), RAPD (random amplified polymorfic DNA) and Multiplex were used, and these methods and their validation are efficient in the study of gene polymorphisms. Moreover, polymerase chain reaction (PCR) is the technique most used in the field of genetic polymorphisms (74%).