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Melo C.O.A.,Replicon | Danin A.R.,Replicon | Silva D.M.,Replicon | Silva D.M.,Lagene Laboratorio Of Citogenetica Humana E Genetica Molecular | And 5 more authors.
Genetics and Molecular Research | Year: 2010

The androgen receptor is encoded by a single-copy gene located in the long arm of the X chromosome (Xq11-12); it consists of eight exons and encodes an intracellular transcription factor that belongs to the steroid/nuclear receptor superfamily. Disturbances in the function of the androgen receptor can lead to several forms of male pseudohermaphroditism, such as androgen insensitivity syndrome, which can lead to infertility. Infertility affects around 20% of couples, and in half of the cases it is a male problem. Seventy male patients with idiopathic infertility were selected; data were obtained on age, drinking and smoking habits, occupation, and family history. The mean age of the patients was 37 years old (standard deviation = 12.3); 44% were azoospermic, 33% were oligozoospermic and 24% did not have alterations in the spermogram. Our objective was to evaluate a possible association between male infertility and mutations in the androgen receptor gene based on the presence or absence of exons 1 and 4 of this gene. These two exons were tested by PCR, and their products were separated on 1.5% agarose gels. We found that azoospermic patients had higher mutation rates on exons 1 and 4 of the androgen receptor gene, when compared to other alterations that also lead to infertility, such as oligozoospermia and teratozoospermia. So, we conclude that patients who do not produce sperm have a higher number of mutations in the androgen receptor gene when compared to those who only have impaired sperm production. Based on molecular analysis, we found that there was no correlation between alterations in the spermogram and mutations on exons 1 and 4 of the androgen receptor gene and no association between alterations in the spermogram and alcohol drinking or smoking. ©FUNPEC-RP. Source


Minasi L.B.,Federal University of Goais | Minasi L.B.,Pontifical Catholic University of Goias | Godoy F.R.,Pontifical Catholic University of Goias | E Silva D.D.M.,Federal University of Goais | And 9 more authors.
Tumor Biology | Year: 2014

The present study compared the gene expression pattern of some previously described genes at the time of diagnosis and after induction chemotherapy for childhood acute lymphoblastic leukemia (ALL) in patients submitted to Brazilian Childhood Leukemia Treatment Group (GBTLI) ALL-99 Protocol. Samples were obtained at the time of diagnosis from 16 patients with ALL and on the 28th day of induction chemotherapy the bone marrow samples were obtained from 12 children. The genes expression profiles in diagnostic and induction samples were analyzed by array-based qPCR and then related to the clinical and biological prognostic factors. The results showed significant associations (p ≤ 0.05) between gender and immunophenotype, immunophenotype and age, immunophenotype and risk group, presence of CD10 and RUNX1 expression, risk group, and immunophenotype. A significant positive correlation was observed between the expression levels of BAX and BCL2. There was a significant difference (p=0.008) between the gene expression pattern at the time of diagnosis and after induction chemotherapy. The expression pattern of these genes after the induction phase of treatment approached the expression profile of the control group, indicating a good induction response in children treated according to the GBTLI ALL-99 protocol. The findings of the current research could be routinely useful for clinical practice and could assist in the discovery phase of medical applications. © International Society of Oncology and BioMarkers (ISOBM) 2013. Source


Minasi L.B.,Federal University of Goais | Costa E.O.A.,Federal University of Goais | Costa E.O.A.,Pontifical Catholic University of Goias | Silva D.M.,Pontifical Catholic University of Goias | And 15 more authors.
Genetics and Molecular Research | Year: 2011

The frequency of micronuclei in both buccal cells and peripheral blood lymphocytes is extensively used as a biomarker of chromosomal damage and genome stability in human populations. We examined whether prolonged exposure to complex mixtures of pesticides leads to an increase in cytogenetic damage. The exposed group comprised 50 agricultural aviators, mainly from Central and Southeast regions of Brazil, who had inhaled agrochemicals for more than 10 years without personal protection equipment; the control group consisted of 17 men from the same regions, without indication of exposure to pesticides, There were three times higher frequencies of micronuclei (P < 0.05) and 2.5 times higher frequencies of binucleated cells in the aviators when compared to controls. However, cytotoxic alterations such as broken eggs and karyorrhexis did not present statistically significant differences between the exposed and control groups. Therefore, diverse agrochemicals used to combat pests in agriculture possess genotoxic effects in the oral mucosa of the agricultural pilots, as showed in this study. © 2011, FUNPEC-RP. Source

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