A.D. Da Cruz
Molecular Diagnosis of X-Fragile Syndrome: Perspectives for the Public Health System in the Central Region of Brazil
X-Fragile Syndrome (FXS) is the most common cause of inherited intellectual disability and the second of genetic origin, with an estimated prevalence of 1/4000 men and 1/6000 women. The etiology is associated with a trinucleotide expansion of CGG sequences and hypermethylation of the promoter region of the FMR1 (Fragile-X Mental Retardation-1) gene, located in the X.. Read More»
Genet. Mol. Res. 16(4): gmr16039848
DOI: 10.4238/gmr16039848
Molecular analysis of patients suspected of Fragile X Syndrome
The aim of this study was to validate the molecular genetic diagnosis of patients suspected of Fragile X Syndrome (FXS) in the Laboratory of Human Cytogenetics and Molecular Genetics (LaGene) of the Department of Health of the State of Goiás, using polymerase chain reaction (PCR). Thirty-five patients referred by public health doctors to LaGene, indicating clinical diagnosis of FXS, were.. Read More»
Genet. Mol. Res. 14(4): DOI http://dx.doi.org/2015.November.18.30
DOI: DOI http://dx.doi.org/10.4238/2015.November.18.30
Identification of trends in scientific publications related to genetic polymorphisms in gestational diabetes mellitus
Gestational diabetes is a genetic multifactorial systemic disease that has been extensively studied. Consequently, there is a large volume of scientific literature pertaining to genes associated with gestational diabetes. The aim of this study was to characterize the main trends in scientific publications focusing on the associations between genetic polymorphisms an.. Read More»
Genet. Mol. Res. 15(2): gmr.15027672
DOI: 10.4238/gmr.15027672
Association between male infertility and androgen receptor mutations in Brazilian patients
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 andr.. Read More»
Genet. Mol. Res. 9(1): vol9-1gmr661
DOI: 10.4238/vol9-1gmr661
Association between an ACAN gene variable number tandem repeat polymorphism and lumbar disc herniation: a case control study
We investigated the association between an aggrecan gene (ACAN) polymorphism and lumbar disc herniation (LDH). This was a case-control study with quinquennial age and gender groups. The study comprised 119 men and women aged between 20 and 60 from Goiânia (Brazil). Of these, 39 were allocated to the case group (Ca) and 80 to the control group (Ct). We gathered.. Read More»
Genet. Mol. Res. 15(4): gmr15048867
DOI: 10.4238/gmr15048867
Postnatal diagnosis of constitutive ring chromosome 13 using both conventional and molecular cytogenetic approaches
We describe the first postnatal diagnosis of a child from Central Brazil with de novo cytogenetic alterations in 13q showing malformations of the brain, eyes, distal limbs, and genitourinary tract, and severe intellectual disability. The karyotype was a constitutive 46,XX,r(13)[77]/45,XX,-13[17]/46,XX,idic r(13)[6]. Interphase and metaphase fluorescence in situ hybridization analyses also showe.. Read More»
Genet. Mol. Res. 14(1): 2015.March.6.15
DOI: 10.4238/2015.March.6.15
Cytogenetic damage in the buccal epithelium of Brazilian aviators occupationally exposed to agrochemicals
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 Short Communication pesticides leads to an increase in cytogenetic damage. The exposed group comprised 50 agricultural avia.. Read More»
Genet. Mol. Res. 10(4):
Y-STR haplotype diversity and population data for Central Brazil: implications for environmental forensics and paternity testing
The central region of Brazil was colonized by internal migration of individuals of different origins, who contributed to the genetic diversity existing in this population. This study determined the allele frequencies and haplotype diversity of Y-STRs in Goiás State, Central Brazil, and compared the data obtained with a sample of the Brazilian population, cons.. Read More»
Genet. Mol. Res. 13(2): http://dx.doi.org/2014.April.30.1
DOI: http://dx.doi.org/10.4238/2014.April.30.1
Homologous recombination between HERVs causes duplications in the AZFa region of men accidentally exposed to cesium-137 in Goi�¢nia
In September 1987, in Goiânia, Brazil, one of the most serious radiological accidents occurred at a radiation therapy unit involving a source of cesium-137. The current study examined the occurrence of possible germline mutations at the AZF region of the exposed men and in their male offspring. Genomic DNA samples of 16 individuals were analyzed for microdeletions. All exposed individuals.. Read More»
Genet. Mol. Res. 7(4):
Assessment of BCL2/J(H) translocation in healthy individuals exposed to low-level radiation of 137CsCl in Goi�¢nia, Goi�¡s, Brazil
Healthy radio-exposed individuals who received low levels of Cesium-137 radiation during the accident that occurred in GoiÃ?¢nia in 1987, their families and controls were tested for the detection of t(14;18)-rearranged B cells in peripheral blood by using a highly sensitive, real-time quantitative PCR method. The chromosomal translocation t(14;18)(q32;q21) is characteristic of follicular lymphoma.. Read More»
Genet. Mol. Res. 12(1): 2013.January.16.6
DOI: 10.4238/2013.January.16.6
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