Human Genetics
A novel polymorphic Alu insertion embedded in a LINE 1 retrotransposon in the human X chromosome (DXS225): identification and worldwide population study
Authors: Rinaldo Wellerson Pereira, Simone Silva dos Santos and S?©rgio Danilo Junho Pena
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 s.. Read More»
- Genet. Mol. Res. 5(1):
Genomic lesions and colorectal carcinogenesis: the effects of protein-calorie restriction and inulin supplementation on deficiency statuses
Authors: W.B. Cantero, N.A. Takahachi, M.O. Mauro, J.R. Pesarini,A.P.M. Rabacow, A.C.M.B. Antoniolli and R.J. Oliveira
The present study investigated the effects of restricting protein and calories and supplementation of inulin, a fiber comprising a linear type of polydisperse carbohydrates composed primarily of fructil-fructose bonds (β-(2→1), on the deficiency statuses of animals in which genomic lesion development and colorectal carcinogenesis had been induce.. Read More»
- Genet. Mol. Res. 14(1):
- http://dx.doi.org/2015.March.27.27
- DOI:
- http://dx.doi.org/10.4238/2015.March.27.27
Micronucleus test on gas station attendants
Authors: Cibelem Iribarrem Benites, L?lian Lund Amado, Rita Aloma Packeiser Vianna and Maria da Gra?§a Martino-Roth
In the present study, the micronucleus test was applied in exfoliated cells of buccal mucosa to assess the mutagenicity risk associated with occupational exposure for gas station attendants. For each individual, 2000 exfoliated buccal cells were analyzed for micronucleus frequency. A highly significant difference was found bet.. Read More»
- Genet. Mol. Res. 5(1):
Inhibitor of signal transducer and activator of transcription 3 (STAT3) suppresses ovarian cancer growth, migration and invasion and enhances the effect of cisplatin in vitro
Authors: Y.J. Tang, Z.L. Sun, W.G. Wu, J. Xing, Y.F. He, D.M. Xin and P. Han
The aim of the present study was to investigate the anti-ovarian cancer effect of the inhibitor of signal transducer and activator of transcription 3 (STAT3), WP1066. Western blot was used to detect the phosphorylation of STAT3 in ovarian cancer cell line SKOV3 and cisplatin-resistant ovarian cancer cell line SKOV3/DDP. MTT and colony-forming assays were .. Read More»
- Genet. Mol. Res. 14(1):
- http://dx.doi.org/2015.March.30.3
- DOI:
- http://dx.doi.org/10.4238/2015.March.30.3
Gly71Arg UGT1A1 polymorphism is associated with breast cancer susceptibility in Han Chinese women
Authors: J. Shi, L.H. Li, X.Y. Duan, Q. Liu, L.L. Sun and Y.T. Tian
Breast cancer is among the most common causes of cancer-related death in women worldwide. Previous studies have demonstrated an association between prolonged estrogen exposure and increased risk of breast cancer. Uridine 5'-diphospho-glucuronosyltransferase 1-1 (UGT1A1) plays a significant role in the detoxification of estrogens. Two major genetic polymor.. Read More»
- Genet. Mol. Res. 15(3):
- gmr.15038332
- DOI:
- 10.4238/gmr.15038332
Hemoglobin and HFE gene polymorphisms in Brazilian populations in regions endemic for malaria (Estudo do polimorfismo de hemoglobinas e do gene HFE em popula?§?µes brasileiras de ?¡reas end?ªmicas de mal?¡ria)
Authors: Felipe Rafael Torres
Our objective was to determine how the distribution of red blood cell diseases is related to malaria occurrence in north Brazil, a region endemic for malaria. We evaluated the incidence of two mutations in the HFE gene, H63D and C282Y, in two study groups: a control blood donor group, with no indication of malaria infection, a.. Read More»
- Genet. Mol. Res. 5(1):
Pharmacogenetic role of XRCC1 polymorphisms on the clinical outcome of gastric cancer patients with platinum-based chemotherapy: a systematic review and meta-analysis
Authors: J. Xu, J. Ma, H.T. Zong, S.Y. Wang and J.W. Zhou
It is still controversial whether X-ray repair cross-complementing group (XRCC1) gene polymorphisms (Arg194Trp and Arg399Gln) are associated with the clinical outcome of platinum-based chemotherapy in gastric cancer patients based on published studies. Meta-analysis was performed to provide a systematic review of the findings... Read More»
- Genet. Mol. Res. 13(1):
- http://dx.doi.org/2014.March.6.2
- DOI:
- http://dx.doi.org/10.4238/2014.March.6.2
CD40 functional gene polymorphisms and mRNA expression in rheumatoid arthritis patients from western Mexico
Authors: I.V. Rom?¡n-Fern?¡ndez, D.F. ?vila-Castillo, S. Cerpa-Cruz,S. Guti?©rrez-Ure?±a, J. Hern?¡ndez-Bello, J.R. Padilla-Guti?©rrez, Y. Valle, M.G. Ram?rez-Due?±as, A.L. Pereira-Su?¡rez and J.F. Mu?±oz-Valle
The CD40 pathway is involved in the development and pathogenesis of autoimmune diseases, including rheumatoid arthritis (RA). Two single nucleotide polymorphisms (SNPs) in the CD40 gene, rs1883832 and rs4810485, are associated with susceptibility to inflammatory and autoimmune diseases and are thought to alter CD40 expression .. Read More»
- Genet. Mol. Res. 15(4):
- gmr15048775
- DOI:
- 10.4238/gmr15048775
Analysis of ELOVL4 and PRPH2 genes in Turkish Stargardt disease patients
Authors: H. Bardak, M. Gunay, Y. Er?§al?±k, Y. Bardak, H. Ozbas, O. Bagci,A. Ayata, M. S?¶nmez and C. Alag?¶z
Stargardt disease (STGD) is an inherited genetic eye condition involving bilateral macular dystrophy leading to progressive central vision loss. It is the most common form of autosomal recessive juvenile macular dystrophy. In this study, ELOVL4 and PRPH2 genes were analyzed in 30 STGD probands for genetic variations using next.. Read More»
- Genet. Mol. Res. 15(4):
- gmr15048774
- DOI:
- 10.4238/gmr15048774
Sequencing of Gag/Env association with HIV genotyping resolution and HIV-related epidemiologic studies of HIV in China
Authors: L. Ren, H.W. Wang, Y. Xu, Y. Feng, H.F. Zhang and K.H. Wang
HIV genotyping has led to conflicting results between laboratories. Therefore, identifying the most accurate gene combinations to sequence remains a priority. Datasets of Chinese HIV subtypes based on several markers and deposited in PubMed, Metstr, CNKI, and VIP databases between 2000 and 2015 were studied. In total, 9177 cas.. Read More»
- Genet. Mol. Res. 15(4):
- gmr15048870
- DOI:
- 10.4238/gmr15048870