Human Genetics
Intermediate alleles of Huntington�s disease HTT gene in different populations worldwide: a systematic review
Authors: T.A. Apolin�¡rio, C.L.A. Paiva and L.A. Agostinho
Huntington’s disease (HD) is an autosomal dominant progressive neurodegenerative disorder caused by a dynamic mutation due to the expansion of CAG repeats in the HTT gene (4p16.3). The considered normal alleles have less than 27 CAG repeats. Intermediate alleles (IAs) show 27 to 35 CAG repeats and expanded alleles have m.. Read More»
- Genet. Mol. Res. 16(2):
- gmr16029648
- DOI:
- 10.4238/gmr16029648
Mitochondrial DNA variability in populations of Centris aenea (Hymenoptera, Apidae), a crop-pollinating bee in Brazil
Authors: V.S. Ferreira C.M.L. Aguiar E.J.F. Oliveira M.A. Costa G.M.M. Santos J.G. Silva
Centris spp are oil-collecting solitary bees that are valuable pollinators of crops such as Brazil nut, cashew, and acerola. We investigated the genetic variability of populations of C. aenea in the northeastern region of Brazil. Total DNA was extracted from 59 individuals from 6 locations in the States of Pernambuco and Bahia and a 600-650-bp fragment of.. Read More»
- Genet. Mol. Res. 12(1):
- 2013.March.15.3
- DOI:
- 10.4238/2013.March.15.3
Polymorphism E23K (rs5219) in the KCNJ11 gene in Euro-Brazilian subjects with type 1 and 2 diabetes
Authors: S.W. Souza, L.P. Alcazar, P.A. Arakaki, I.C.R. Santos-Weiss, D. Alberton, G. Picheth and F.G.M. Rego
Insulin secretion is regulated by ATP-sensitive potassium channels (KATP). The potassium inwardly-rectifying channel, subfamily J, member 11 (KCNJ11) gene, located on chromosome 11p15.1, encodes the subunit Kir6.2 that forms the pore region of KATP channels in pancreatic β-cells. Among the single nucleotide polymorphisms .. Read More»
- Genet. Mol. Res. 16(2):
- gmr16029543
- DOI:
- 10.4238/gmr16029543
Cathecol-O-methyl transferase Val158Met genotype is not a risk factor for conversion disorder
Authors: E. Armagan M.L. Almac�±oglu T. Yakut A. K�¶se M. Karkucak O. K�¶ksal O. Gorukmez
Alterations in catechol-O-methyltransferase (COMT) activity are involved in various types of neurological disorders. We examined a possible association between the COMT Val158Met polymorphism and conversion disorder in a study of 48 patients with conversion disorder and 48 control patients. In the conversion disorder group, 31 patients were Val/Met hetero.. Read More»
- Genet. Mol. Res. 12(1):
- 2013.March.19.1
- DOI:
- 10.4238/2013.March.19.1
Genetic diversity and population structure in Brazilian Mangalarga Marchador horses
Authors: J.B. DeAssis, D.M. DeLaat, M.G.C.D. Peixoto, J.A.G. Bergmann,C.G. Fonseca and M.R.S. Carvalho
One hundred and fifteen unrelated Mangalarga Marchador horses were sampled from three geographically distinct regions of Minas Gerais State, Brazil (South, Southeast, and Northeast) and tested for 10 microsatellite loci. Genetic diversity and population structure parameters were estimated with ARLEQUIN 3.0, CERVUS 2.0, POPGENE.. Read More»
- Genet. Mol. Res. 8(4):
- vol8-4gmr647
- DOI:
- 10.4238/vol8-4gmr647
Combined detection of p53, p16, Rb, and EGFR mutations in lung cancer by suspension microarray
Authors: Y. Ye, D. Wang, C. Su, T. Rong and A. Guo
Mutations of some contributing factors (p53, p16, Rb, and EGFR) are believed to affect diagnosis and drug resistance of lung cancer. We evaluated the efficacy of a multimarker panel for molecular diagnosis of lung cancer, using a high-throughput suspension microarray. One hundred and twenty-five lung cancer specimens and 30 tu.. Read More»
- Genet. Mol. Res. 8(4):
- vol8-4gmr627
- DOI:
- 10.4238/vol8-4gmr627
Dietary carotenoid-rich pequi oil reduces plasma lipid peroxidation and DNA damage in runners and evidence for an association with MnSOD genetic variant -Val9Ala
Authors: A.L. Miranda-Vilela, A.K. Akimoto, P.C.Z. Alves, L.C.S. Pereira,C.A. Gon�§alves, M.N. Klautau-Guimar�£es and C.K. Grisolia
Physical training induces beneficial adaptations; however, exhausting exercise increases reactive oxygen species generation, resulting in damage to DNA and tissues. Pequi (Caryocar brasiliense), a fruit of the Brazilian Cerrado, contains a carotenoid-rich oil. We investigated whether pequi oil had antioxidant effects in runner.. Read More»
- Genet. Mol. Res. 8(4):
Simultaneous presence of bovine papillomavirus in blood and in short-term lymphocyte cultures from dairy cattle in Pernambuco, Brazil
Authors: N. Diniz, T.C. Melo, J.F. Santos, E. Mori, P.E. Brand�£o, L.J. Richtzenhain, A.C. Freitas, W. Be�§ak, R.F. Carvalho and R.C. Stocco
Bovine papillomaviruses (BPV) are the causal agents of benign and malignant lesions; they can cause dramatic economic losses in cattle. Although 10 virus types have been described, three types are most common in tumors, namely BPV-1, -2 and -4. Previous studies have reported BPV in blood cells and the possibility of blood acti.. Read More»
- Genet. Mol. Res. 8(4):
- vol8-4gmr668
- DOI:
- 10.4238/vol8-4gmr668
Development of a polymorphic short tandem repeat locus multiplex system for efficient human identification
Authors: R.G. Rodovalho, E.L. Rodrigues, G.S. Santos, L.M. Cavalcanti,P.R. Lima, A.G. Rodovalho, R.G. Vital, M.A.D. Gigonzac and A.D. da Cruz
This study aimed to develop a short tandem repeat (STR) multiplex system, made up of 22 highly informative STR loci, for application in forensic genetics. The system comprised 21 polymorphic autosomal loci (D3S1358, TH01, D21S11, D18S51, Penta E, D5S818, D13S317, D7S820, D16S539, CSF1PO, Penta D, vWA, D8S1179, TPOX, FGA, D2S44.. Read More»
- Genet. Mol. Res. 16(2):
- gmr16029557
- DOI:
- 10.4238/gmr16029557
Association between TNF-�±rs1799724 and rs1800629 polymorphisms and the risk of Crohnâ��s disease
Authors: Y.Q. Mao, S.Q. Dong, M. Gao
We investigated the associations between 2 major tumor necrosis factor-α (TNF-α) polymorphisms, rs1799724 C>T and rs1800629 G>A, and the susceptibility to Crohn’s disease (CD) using a meta-analysis framework. The PubMed, EBSCO, Ovid, Wiley, Web of Science, WANFANG, and VIP databases (last updated search.. Read More»
- Genet. Mol. Res. 14(4):
- 2015.December.1.33
- DOI:
- 10.4238/2015.December.1.33