Medical Genetics
Elucidation of bacterial community structure on thin-spined porcupine (Chaetomys subspinosus) spines by denaturing gradient gel electrophoresis (DGGE) and sequencing
Authors: R.A. Bezerra, G.A.F. Gin�©, E.L.S. Marques, M.F. Abreu-Tarazi, R.P. Rezende and F.A. Gaiotto
Thin-spined porcupines (Chaetomys subspinosus) are threatened with extinction and are categorized as vulnerable. This is because of alteration to and loss of their habitat and possible hunting activities in their distribution area. Their spines constitute one of their defense mechanisms, which can be fomites for pathogens to h.. Read More»
- Genet. Mol. Res. 14(4):
- 2015.October.2.20
- DOI:
- 10.4238/2015.October.2.20
Comparison of oxidative stress and the frequency of polymorphisms in the HFE gene between hemoglobin S trait blood donors and sickle cell disease patients
Authors: L.M.S. Viana-Baracioli, N.C. Tukamoto Junior, O. Ricci Junior, L.C. Mattos, I.L. Ã?Â?ngulo and C.R. Bonini-Domingos
It is well documented that Hb S and iron affect blood cells, and trigger oxidative processes and generation of free radicals with potential for lipid peroxidation. We evaluated the frequency of polymorphisms in the HFE gene in Hb AS blood donors and how these polymorphisms influenced lipid peroxidation and antioxidant capacity.. Read More»
- Genet. Mol. Res. 10(4):
- 2011.December.8.4
- DOI:
- 10.4238/2011.December.8.4
Analysis of common MDR1 (ABCB1) gene C1236T and C3435T polymorphisms in Turkish patients with familial Mediterranean fever
Authors: A. R�¼stemoglu, G. Gumus-Akay, S. Yigit and T. Tasliyurt
The multidrug resistance (MDR1) gene encodes a P-glycoprotein that plays a key role in drug bioavailability and response to drugs in different human populations. More than 50 SNPs have been described for the MDR1 gene. Familial Mediterranean fever (FMF) is considered an autosomal recessive hereditary disease, associated with a.. Read More»
- Genet. Mol. Res. 10(4):
- 2011.December.14.7
- DOI:
- 10.4238/2011.December.14.7
Risk analysis of duo parentage testing with limited STR loci
Authors: M.X. Zhang, H.M. Gao, S.Y. Han, Y. Liu, Y.L. Tian, S.H. Sun, D.J. Xiao, C.T. Li and Y.S. Wang,
The aim of this study was to evaluate whether the Goldeneye 20A system (containing 19 short tandem repeats) can avert the shortage of duo parentage tests. Among routine cases typed by the Identifiler system, we identified 42 motherless cases, 2 fatherless cases, and 34 trio cases containing 1 locus mismatch and 4 motherless ca.. Read More»
- Genet. Mol. Res. 13(1):
- http://dx.doi.org/2014.February.27.2
- DOI:
- http://dx.doi.org/10.4238/2014.February.27.2
Role of the RUNX2 p.R225Q mutation in cleidocranial dysplasia: a rare presentation and an analysis of the RUNX2 protein structure
Authors: L.Z. Wu, W.Q. Su, Y.F. Liu, X. Ge, Y. Zhang and X.J. Wang
Cleidocranial dysplasia (CCD; MIM 119600) is an autosomal dominant hereditary disorder of skeletal features whose characteristic clinical symptoms are caused by mutations in the RUNX2 gene. Varying degrees of clavicular hypoplasia and dental abnormalities are the most prominent features of this disorder. In this study, we pres.. Read More»
- Genet. Mol. Res. 13(1):
- http://dx.doi.org/2014.February.27.3
- DOI:
- http://dx.doi.org/10.4238/2014.February.27.3
Association between retinoid-X receptor-gamma genetic polymorphisms and diabetic retinopathy
Authors: C.-H. Hsieh, D. Pei, Y.-J. Hung and F.-C. Hsiao
Retinoid-X receptor (RXR) is one of the members of the nuclear hormone receptor superfamily. It forms heterodimers with many nuclear receptors, such as the peroxisome proliferative-activated receptor, which has been proposed to be involved in diabetic complications, including retinopathy. A recent study revealed that RXR-alpha.. Read More»
- Genet. Mol. Res. 10(4):
- 2011.December.5.4
- DOI:
- 10.4238/2011.December.5.4
Correlation between polymorphisms in the IL-17A and IL-17F genes and development of coronary artery disease
Authors: G.Y. Geng, H.L. Liu, Y.J. Zhao, L. Wu, L. Mao and N. Ba
A case-control study was conducted to investigate the association between genetic variants of IL-17A rs2275913 and IL-17F rs763780 and the development of coronary artery disease (CAD) in a Chinese population. A total of 306 individuals with CAD and 306 unaffected individuals were enrolled from the Zhengzhou People’s Hospital between May 2012 and May.. Read More»
- Genet. Mol. Res. 14(3):
- http://dx.doi.org/2015.September.25.15
- DOI:
- http://dx.doi.org/10.4238/2015.September.25.15
Effects of glucose and disorders in lipid metabolism on cytokine levels and cognitive impairment in the olanzapine-induced obesity rat model
Authors: X.J. Ma, T.X. Maimaitirexiati, R. Zhang, G. Hu and X. Luo
The aim of the study was to explore the effects of increased levels of blood sugar and cytokines on impaired cognitive function in the olanzapine-induced obesity rat model. A total of 40 rats were randomly divided into 2 groups; the control and olanzapine groups (N = 20 per group). The control rats were fed regular food, while the olanzapine rats received.. Read More»
- Genet. Mol. Res. 14(3):
- http://dx.doi.org/2015.September.25.7
- DOI:
- http://dx.doi.org/10.4238/2015.September.25.7
Association of -619C/T polymorphism in CDSN gene and psoriasis risk: a meta-analysis
Authors: Y. Wu, B. Wang, J.L. Liu, X.H. Gao, H.D. Chen and Y.H. Li
Previous studies investigating the association between corneodesmosin (CDSN) polymorphisms and psoriasis risk have provided inconsistent results. The aim of our study was to clarify the effects of CDSN -619C/T polymorphism on psoriasis risk by conducting a meta-analysis. We conducted searches of the published literature in Pub.. Read More»
- Genet. Mol. Res. 10(4):
- 2011.October.21.6
- DOI:
- 10.4238/2011.October.21.6
Meta-analysis of an association of codon 72 polymorphisms of the p53 gene with increased endometrial cancer risk
Authors: Y. Gu, X. Zhou and S.L. Zhang
Polymorphisms of the p53 gene have been associated with susceptibility to endometrial cancer. However, whether there is a specific association is still controversial. We investigated a possible association between p53 codon 72 polymorphism and endometrial cancer risk by conducting a meta-analysis. Publications addressing this .. Read More»
- Genet. Mol. Res. 10(4):
- 2011.October.31.11
- DOI:
- 10.4238/2011.October.31.11