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Human Genetics

Human Genetics   Research Article

Genetic variations of 21 STR markers on chromosomes 13, 18, 21, X, and Y in the south Iranian population

Authors: J. Saberzadeh, M.R. Miri, M.B. Tabei, M. Dianatpour and M. Fardaei

Quantitative fluorescent polymerase chain reaction (QF-PCR), in recent years, has been accepted as a rapid, high throughput, and sensitive method for prenatal diagnosis of common chromosomal aneuploidies. Since short tandem repeats (STRs) are the cornerstone of QF-PCR technique, selection of the most polymorphic STR markers is.. Read More»

Genet. Mol. Res. 15(4):
gmr15049065
DOI:
10.4238/gmr15049065
Human Genetics   Case Reports

Association between an ACAN gene variable number tandem repeat polymorphism and lumbar disc herniation: a case control study

Authors: N.L.L. Casa, A.J. Casa Junior, A.V. Melo, L.S. Teodoro,G.R. Nascimento, A.F. Sousa, T.C. Flausino, D. Brito, R. Bergamini, L.B. Minasi, A.D. da Cruz, T.C. Vieira and M.P. Curado

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 8.. Read More»

Genet. Mol. Res. 15(4):
gmr15048867
DOI:
10.4238/gmr15048867
Human Genetics   Research Article

Association between CYP19A1, GSTM1, GSTT1, and GSTP1 genetic polymorphisms and the development of endometriosis in a Chinese population

Authors: Y. Tuo, J.Y. He, W.J. Yan and J. Yang

Endometriosis is a common, complicated, and highly heterogeneous endocrine disease. Many genetic factors could affect the development of endometriosis. We performed a case-control study to evaluate the association between polymorphisms in CYP19A1 rs2899470, GSTM1, GSTT1, and GSTP1 rs1695 and the development of endometriosis in.. Read More»

Genet. Mol. Res. 15(4):
gmr15048837
DOI:
10.4238/gmr15048837
Human Genetics   Research Article

Association between IL18-607C/A and -137G/C polymorphisms and susceptibility to non-small cell lung cancer in a Chinese population

Authors: W.Y. Gan, H.M. Li, Y.G. Zhang, C.M. Li and Y. Wang

Lung cancer is one of the main causes of cancer-related mortality in males and females worldwide. A pleiotropic effect has been observed in the interleukin 18 gene (IL18); its effects include the activation of natural killer cell cytotoxicity and the promotion of the Th1 immune response through the alteration of the expression.. Read More»

Genet. Mol. Res. 15(4):
gmr15048822
DOI:
10.4238/gmr15048822
Human Genetics   Research Article

Molecular characterization and population structure study of cambuci: strategy for conservation and genetic improvement

Authors: D.N. Santos, C.F. Nunes, T.A. Setotaw, R. Pio, M. Pasqual and G.M.A. Can�§ado

Cambuci (Campomanesia phaea) belongs to the Myrtaceae family and is native to the Atlantic Forest of Brazil. It has ecological and social appeal but is exposed to problems associated with environmental degradation and expansion of agricultural activities in the region. Comprehensive studies on this species are rare, making its.. Read More»

Genet. Mol. Res. 15(4):
gmr15049134
DOI:
10.4238/gmr15049134
Human Genetics   Research Article

Association between TXNRD1 polymorphisms and anti-tuberculosis drug-induced hepatotoxicity in a prospective study

Authors: G.Y. Ji, Y. Wang, S.Q. Wu, Q.Q. Liu, J.C. Wu, M.M. Zhang, A.J. Sandford and J.Q. He

Anti-tuberculosis drug-induced hepatotoxicity (ATDH) is a serious adverse reaction to anti-tuberculosis (TB) treatment. Thioredoxin reductase 1 (TXNRD1), encoded by the TXNRD1 gene, is an important enzyme involved in oxidant challenge. TXNRD1 plays a key role in regulating cell growth and transformation, and protects cells aga.. Read More»

Genet. Mol. Res. 15(3):
gmr.15038296
DOI:
10.4238/gmr.15038296
Human Genetics   Research Article

��F508 mutation screening of healthy individuals from two populations in Esp�­rito Santo State, Brazil

Authors: A.M. Lanes, L.S. Louro, D.P. Ventorim, E. Stur, F.M. Garcia, L.P. Agostini, L.N.R. Alves, R.S. Reis, I.D. Louro and R.S. Dettogni

The ΔF508 mutation is the most common cause of cystic fibrosis and its prevalence varies worldwide. For instance, up to 20-fold variations in its frequency have been recorded across different areas of Brazil. This study aimed to compare the distribution of ΔF508 among healthy individuals of admixed Portuguese desce.. Read More»

Genet. Mol. Res. 15(4):
gmr15049387
DOI:
10.4238/gmr15049387
Human Genetics   Research Article

Using the Gene Ontology tool to producede novo protein-protein interaction networks with IS_A relationship

Authors: G.S. Oliveira and A.R. Santos

Since the first assembled genomes, gene sequences alone have not been sufficient to understand complex metabolic processes involving several genes, each playing distinct roles. To identify their roles, a network of interactions, wherein each gene is a node, should be created. Edges connecting nodes are evidence of interaction,.. Read More»

Genet. Mol. Res. 15(4):
gmr15049273
DOI:
10.4238/gmr15049273
Human Genetics   Research Article

Evaluation of the antimutagenic and anticarcinogenic effects of inulin in vivo

Authors: M.O. Mauro, M.T.F.D. Monreal, M.T.P. Silva, J.R. Pesarini, M.S. Mantovani, L.R. Ribeiro, J.B. Dichi, C.M. Carreira and R.J. Oliveira

The incidence of colorectal cancer is growing worldwide. The characterization of compounds present in the human diet that can prevent the occurrence of colorectal tumors is vital. The oligosaccharide inulin is such a compound. The aim of this study was to evaluate the antigenotoxic, antimutagenic and anticarcinogenic effects of inulin in vivo. Our study i.. Read More»

Genet. Mol. Res. 12(3):
2013.July.8.9
DOI:
10.4238/2013.July.8.9
Human Genetics   Research Article

Association between the epidermal growth factor gene polymorphism and endometriosis in women from Brazil

Authors: C.B.N. Oliveira, P. Falagan-Lotsch, M.G. Souza, R.P. Santos, F. Encinas, H. Teles, R.B. Lasmar, L.B. Duarte, J.M. Granjeiro and I.A. Penna

The aim of this study was to verify the association between the epidermal growth factor (EGF) +61 G/A polymorphism and the susceptibility to endometriosis using a case-control design study. The control group included fertile women without endometriosis and the case group included endometriosis patients. Polymerase chain reacti.. Read More»

Genet. Mol. Res. 13(3):
2014.September.5.8
DOI:
10.4238/2014.September.5.8