Polymorphism

Vascular endothelial growth factor gene polymorphisms and colorectal cancer risk: a meta-analysis

L. P. Zhou, Luan, H., Dong, X. H., Jin, G. J., Man, D. L., and Shang, H., Vascular endothelial growth factor gene polymorphisms and colorectal cancer risk: a meta-analysis, vol. 10, pp. 3674-3688, 2011.

Vascular endothelial growth factor (VEGF) is an endothelial cell-specific mitogen involved in a number of pathologic processes, including angiogenesis, tumor growth and metastasis. Polymorphisms of the VEGF gene have been associated with susceptibility to colorectal cancer (CRC). However, the specific association still remains controversial. We made a meta-analysis of the association between VEGF gene polymorphisms and CRC risk. Only eight case-control studies were retrieved, with a total of 2337 CRC patients and 2032 healthy controls.

Correlation of polymorphism C3435T of the MDR-1 gene and the response of primary chemotherapy in women with locally advanced breast cancer

F. F. O. Rodrigues, Santos, R. E., Melo, M. B., Silva, M. A. L. G., Oliveira, A. L., Rozenowicz, R. L., Ulson, L. B., and Aoki, T., Correlation of polymorphism C3435T of the MDR-1 gene and the response of primary chemotherapy in women with locally advanced breast cancer, vol. 7, pp. 177-183, 2008.

Primary chemotherapy is a useful strategy for the treatment of locally advanced breast cancer and therefore allows in vivo evaluation of the action of cytotoxic drugs and the possibility of accomplishing conservative breast surgeries, as well as the early treatment of metastasis. Mechanisms of resistance to the drugs include the action of protein associated with the efflux of drugs from the intracellular environment hindering their activity; one of the most studied proteins is P-glycoprotein codified by the MDR-1 gene.

Evaluation of genetic diversity in jackfruit (Artocarpus heterophyllus Lam.) based on amplified fragment length polymorphism markers

S. Shyamalamma, Chandra, S. B. C., Hegde, M., and Naryanswamy, P., Evaluation of genetic diversity in jackfruit (Artocarpus heterophyllus Lam.) based on amplified fragment length polymorphism markers, vol. 7, pp. 645-656, 2008.

Artocarpus heterophyllus Lam., commonly called jackfruit, is a medium-sized evergreen tree that bears high yields of the largest known edible fruit. Yet, it has been little explored commercially due to wide variation in fruit quality. The genetic diversity and genetic relatedness of 50 jackfruit accessions were studied using amplified fragment length polymorphism markers. Of 16 primer pairs evaluated, eight were selected for screening of genotypes based on the number and quality of polymorphic fragments produced.

Schistosome/mollusk: genetic compatibility

A. L. D. Oliveira, Da Silva, D., Zanotti-Magalhães, E. M., Zanotti-Magalhães, E. M., Abdel-Hamid, A. Z., and Ribeiro-Paes, J. T., Schistosome/mollusk: genetic compatibility, vol. 7, pp. 518-526, 2008.

Schistosomiasis remains one of the most prevalent parasitic infections and has significant economic and public health consequences in many developing countries. Economic development and improvement in standard of living in these countries are dependent on the elimination of this odious disease.

Genotype and allele frequencies of MDR1 gene C1236T polymorphism in a Turkish population

G. Gümüş-Akay, üstemoğlu, A. R., Karadağ, A., Sunguroĝlu, A., and Sunguroĝlu, A., Genotype and allele frequencies of MDR1 gene C1236T polymorphism in a Turkish population, vol. 7, pp. 1193-1199, 2008.

Human P-glycoprotein (P-gp) is encoded by the MDR1 gene, which is located on chromosomal region 7q21 and consists of 28 exons. To date, over 50 single nucleotide polymorphisms (SNPs) have been reported for the MDR1 gene. The effect of these polymorphisms on P-gp function or their clinical impact is in most cases unknown, but some of the SNPs are known to be of functional relevance and can also alter the pharmacokinetics of substrate drugs.

Polymorphisms and DNA methylation of gene TP53 associated with extra-axial brain tumors

L. O. Almeida, Custódio, A. C., Pinto, G. R., Santos, M. J., Almeida, J. R. W., Clara, C. A., Rey, J. A., and Casartelli, C., Polymorphisms and DNA methylation of gene TP53 associated with extra-axial brain tumors, vol. 8, pp. 8-18, 2009.

The p53 tumor suppressor gene is the most frequently mutated gene in human cancer; this gene is mutated in up to 50% of human tumors. It has a critical role in the cell cycle, apoptosis and cell senescence, and it participates in many crucial physiological and pathological processes. Polymorphisms of p53 have been suggested to be associated with genetically determined susceptibility in various types of cancer. Another process involved with the development and progression of tumors is DNA hypermethylation.

Molecular markers in commercial Bombyx mori (Lepidoptera: Bombycidae) hybrids susceptible to multiple nucleopolyhedrovirus

L. F. C. Ribeiro, Zanatta, D. B., Bravo, J. P., Brancalhão, R. M. C., and Fernandez, M. A., Molecular markers in commercial Bombyx mori (Lepidoptera: Bombycidae) hybrids susceptible to multiple nucleopolyhedrovirus, vol. 8, pp. 144-153, 2009.

The silkworm Bombyx mori L. is particularly susceptible to virus diseases, especially B. mori nucleopolyhedrovirus (BmNPV). Disease resistance, along with high productivity, are important selection criteria for developing commercial hybrids of B. mori. We used bioassays and molecular markers linked to susceptibility/resistance to baculovirus infection to analyze the response of commercial B. mori hybrids from two companies to a geographic isolate of B. mori multiple nucleopolyhedrovirus (BmMNPV) from Paraná state in Brazil.

Genetic diversity in somatic mutants of grape (Vitis vinifera) cultivar Italia based on random amplified polymorphic DNA

S. H. Z. Maia, Mangolin, C. A., Collet, S. A. O., and Machado, M. F. P. S., Genetic diversity in somatic mutants of grape (Vitis vinifera) cultivar Italia based on random amplified polymorphic DNA, vol. 8, pp. 28-38, 2009.

Random amplified polymorphic DNA (RAPD) markers were used to detect polymorphism and to examine relationships among four table grape clones from northwestern Paraná, in southern Brazil. The 10 primers used for RAPD fingerprints generated 126 reproducible fragments, of which 63, 68, 76, and 72 were polymorphic in cultivars Italia, Rubi, Benitaka, and Brasil, respectively. Among the primers, OPP-08 generated the highest number of fragments, whereas OPE-15 was the most efficient for discriminating polymorphic fragments.

Detection of polymorphisms of the mtDNA control region of Caretta caretta (Testudines: Cheloniidae) by PCR-SSCP

E. C. Reis, Albano, R. M., Bondioli, A. C. V., Soares, L. S., Lôbo-Hajdu, G., and Lôbo-Hajdu, G., Detection of polymorphisms of the mtDNA control region of Caretta caretta (Testudines: Cheloniidae) by PCR-SSCP, vol. 8, pp. 215-222, 2009.

Marine turtles are increasingly being threatened worldwide by anthropogenic activities. Better understanding of their life cycle, behavior and population structure is imperative for the design of adequate conservation strategies. The mtDNA control region is a fast-evolving matrilineal marker that has been employed in the study of marine turtle populations. We developed and tested a simple molecular tracing system for Caretta caretta mtDNA haplotypes by polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP).

A novel polymorphic Alu insertion embedded in a LINE 1 retrotransposon in the human X chromosome (DXS225): identification and worldwide population study

R. Wellerson Pereira, Santos, S. Silva dos, and Pena, S. Danilo Jun, A novel polymorphic Alu insertion embedded in a LINE 1 retrotransposon in the human X chromosome (DXS225): identification and worldwide population study, vol. 5, pp. 63-71, 2006.

We describe a novel polymorphic Alu insertion (DXS225) on the human X chromosome (Xq21.3) embedded into an L1 retrotransposon. The DXS225 polymorphism was genotyped in 684 males from the CEPH Human Genome Diversity Panel. This insertion was found in all regions of the globe, suggesting that it took place before modern humans spread from Africa ca. 100,000 years ago. However, only one Amerindian population (Karitiana) showed this insertion allele, which may have been introduced by European admixture.

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