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Human Genetics

Human Genetics   Research Article

Incidence of bovine leukocyte adhesion deficiency, complex vertebral malformation, and deficiency of uridine-5-monophosphate synthase carriers in Brazilian Girolando cattle

Authors: D.S. Paiva, I. Fonseca, I.S.B. Pinto, P. Ianella, T.A. Campos, A.R. Caetano, S.R. Paiva, M.V.G.B. Silva and M.F. Martins

Among the various hereditary diseases that have been widely studied in dairy cattle, bovine leukocyte adhesion deficiency (BLAD), deficiency of uridine-5-monophosphate synthase (DUMPS), and complex vertebral malformation (CVM) are noteworthy because of their high impact on overall herd productivity as a consequence of increased calf mortality. The aim of .. Read More»

Genet. Mol. Res. 12(3):
2013.August.29.2
DOI:
10.4238/2013.August.29.2
Human Genetics   Research Article

Genotoxicity in oral epithelial cells in children caused by nickel in metal crowns

Authors: J. Mor�¡n-Mart�­nez, K.D. Monreal-de Luna, N.D. Betancourt-Mart�­nez, P. Carranza-Rosales, J.G. Contreras-Mart�­nez, M.C. L�³pez-Meza and O. Rodr�­guez-Villarreal

The micronucleus (MN) assay evaluates the effects of low doses of genotoxic carcinogens and can detect structural lesions that survive mitotic cycles. The objective of this study was to determine both the genotoxicity of nickel (Ni) in buccal epithelial cells and the urinary excretion of Ni in children with metal crowns. This was a prospective longitudina.. Read More»

Genet. Mol. Res. 12(3):
2013.August.29.1
DOI:
10.4238/2013.August.29.1
Human Genetics   Research Article

Characterization of myostatin gene (MSTN) of Pekin duck and the association of its polymorphism with breast muscle traits

Authors: T.S. Xu, L.H. Gu, X.H. Zhang, B.G. Ye, X.L. Liu and S.S. Hou

Myostatin, encoded by the MSTN gene, is a negative regulator of muscle growth, and its expression level in muscle tissue is closely correlated with muscle growth and satellite cell proliferation. To identify the characteristics of the Pekin duck MSTN gene and the relationship between its polymorphism and breast muscle traits in Pekin duck, cDNA cloning an.. Read More»

Genet. Mol. Res. 12(3):
2013.February.28.18
DOI:
10.4238/2013.February.28.18
Human Genetics   Research Article

Cytochemical characteristics of blood cells from Brazilian tortoises (Testudines: Testudinidae)

Authors: G.S. Martins, K.C.C. Alevi, M.T.V. Azeredo-Oliveira and C.R. Bonini-Domingos

The hematology of wild and captive animals is essential for obtaining details about species and represents a simple method of diagnosing disease and determining prognosis. Few studies have described the morphology of chelonian blood cells, which are more common in sea and freshwater turtle species. Thus, in order to further ou.. Read More»

Genet. Mol. Res. 15(1):
gmr.15017549
DOI:
10.4238/gmr.15017549
Human Genetics   Research Article

Interethnic variation of the MMP-9 microsatellite in Amerindian and Mexican Mestizo populations: considerations for genetic association studies

Authors: R. Camacho-Mejorado, G. Noris, C. Santana, J.J. Maga�±a,A. Majluf-Cruz, J. Arellano-Galindo, A. De la Pe�±a, J. Hern�¡ndez-Ju�¡rez, E.S. Calder�³n-Aranda, M.A. Meraz-R�­os and R. G�³mez

We studied the interethnic variation of the MMP-9 microsatellite in the Mestizo and Amerindian populations using blood samples collected from 435 healthy unrelated individuals from the Central Valley of Mexico. DNA samples were genotyped using the -90 (CA)12-27 repeat near the MMP transcriptional start site using capillary ele.. Read More»

Genet. Mol. Res. 14(1):
2015.March.31.24
DOI:
10.4238/2015.March.31.24
Human Genetics   Research Article

Prenatal diagnosis of a partial trisomy 13q (q14�qter): phenotype, cytogenetics and molecular characterization by spectral karyotyping and array comparative genomic hybridization

Authors: I.N. Machado, J.K. Heinrich, C. Campanhol, R.M. Rodrigues-Peres, F.M. Oliveira and R. Barini

Partial trisomy 13q is an uncommon chromosomal abnormality with variable phenotypic expression. We report prenatal diagnosis of partial trisomy 13q in a fetus with partial agenesis of the cerebellar vermis, partial agenesis of the corpus callosum, hydrops and polyhydramnios. G-banding karyotyping, spectral karyotyping and arra.. Read More»

Genet. Mol. Res. 9(1):
vol9-1gmr716
DOI:
10.4238/vol9-1gmr716
Human Genetics   Short communication

Abnormal hemoglobin phenotypes in carriers of mild anemia in Latin America

Authors: P.J.A. Zamaro and C.R. Bonini-Domingos

We looked for abnormal hemoglobins in blood samples sent for diagnosis of anemia. Identification of the hemoglobins was made using electrophoretic, chromatographic and molecular procedures. The 2020 blood samples were of patients from various regions of Brazil and from some other Latin American countries. Among the abnormal he.. Read More»

Genet. Mol. Res. 9(1):
vol9-1gmr721
DOI:
10.4238/vol9-1gmr721
Human Genetics   Research Article

Efficient human paternity testing with a panel of 40 short insertion-deletion polymorphisms

Authors: J.R. Pimenta and S.D.J. Pena

We developed a panel of 40 multiplexed short insertion-deletion (indel) polymorphic loci with widespread chromosomal locations and allele frequencies close to 0.50 in the European population. We genotyped these markers in 360 unrelated self-classified White Brazilians and 50 mother-child-probable father trios with proven pater.. Read More»

Genet. Mol. Res. 9(1):
vol9-1gmr838
DOI:
10.4238/vol9-1gmr838
Human Genetics   Research Article

Artificial intelligence in the selection of common bean genotypes with high phenotypic stability

Authors: A.M. Corr�ªa, P.E. Teodoro, M.C. Gon�§alves, L.M.A. Barroso,M. Nascimento, A. Santos and F.E. Torres

Artificial neural networks have been used for various purposes in plant breeding, including use in the investigation of genotype x environment interactions. The aim of this study was to use artificial neural networks in the selection of common bean genotypes with high phenotypic adaptability and stability, and to verify their .. Read More»

Genet. Mol. Res. 15(2):
gmr.15028230
DOI:
10.4238/gmr.15028230
Human Genetics   Research Article

Association of the programmed cell death-1 PD1.5 C>T polymorphism with cervical cancer risk in a Chinese population

Authors: X.F. Li, X.Q. Jiang, J.W. Zhang and Y.J. Jia

The association of the programmed cell death-1 PD1.5 C>T polymorphism with cervical cancer risk has not been investigated. In this hospital-based case-control study, we analyzed 256 patients with cervical cancer and 250 healthy controls. Pearson chi-square test was used to examine differences in the distribution of genotype.. Read More»

Genet. Mol. Res. 15(1):
gmr.15016357
DOI:
10.4238/gmr.15016357