Human Genetics
Identification of a mutation in Hepatitis B virus surface antigen capable of evading ELISA screening
Authors: Y. Cui, T. Zhang, Y. Yan and K. Liu
Hepatitis B virus (HBV) infection can cause HBV-related cirrhosis, liver failure, and hepatocellular carcinoma. At present, a hepatitis B surface antigen (HBsAg) blood test is the primary clinical and diagnostic marker for the identification of a chronic HBV infection. In the current study, we isolated a novel HBV mutant from a chronic HBV patient, capabl.. Read More»
- Genet. Mol. Res. 15(3):
- gmr.15037582
- DOI:
- 10.4238/gmr.15037582
PedExpert: a computer program for the application of Bayesian networks to human paternity testing
Authors: R.R. Gomes S.V.A. Campos S.D.J. Pena
PedExpert is a Windows-based Bayesian network software, especially constructed to solve problems in parentage testing that are complex because of missing genetic information on the alleged father and/or because they involve genetic mutations. PedExpert automates the creation and manipulation of Bayesian networks, implementing .. Read More»
- Genet. Mol. Res. 8(1):
- vol8-1gmr555
- DOI:
- 10.4238/vol8-1gmr555
Association between the thrombophilic polymorphisms MTHFR C677T, Factor V Leiden, and prothrombin G20210A and recurrent miscarriage in Brazilian women
Authors: R.O. Gon�§alves, L.R. Fraga, W.V.B. Santos, A.F.L. Carvalho, B.A.V. Veloso Cerqueira, M. Sarno, M.B.P. Toralles, M.J. Vieira, C.G. Dutra, L. Sch�¼ler-Faccini, M.T.V. Sanseverino, M.S. Gon�§alves, F.S.L. Vianna and O.L.N. Costa
Some cases of recurrent first trimester miscarriage have a thrombotic etiology. The aim of this study was to investigate the prevalence of the most common thrombophilic mutations - factorV (FV) Leiden G1691A (FVL), prothrombin (FII) G20210A, and methylenetetrahydrofolate reductase (MTHFR) C677T - in women with recurrent miscarriages. In this case-control .. Read More»
- Genet. Mol. Res. 15(3):
- gmr.15038156
- DOI:
- 10.4238/gmr.15038156
Oligonucleotide microarray analysis reveals dysregulation of energy-related metabolism in insulin-sensitive tissues of type 2 diabetes patients
Authors: M. Wang, X.C. Wang, L. Zhao, Y. Zhang, L.L. Yao1, Y. Lin, Y.D. Peng and R.M. Hu
Impaired insulin action within skeletal muscle, adipose tissue, and the liver is an important characteristic of type 2 diabetes (T2D). In order to identify common underlying defects in insulin-sensitive tissues that may be involved in the pathogenesis of T2D, the gene expression profiles of skeletal muscle, visceral adipose ti.. Read More»
- Genet. Mol. Res. 13(2):
- http://dx.doi.org/2014.June.17.1
- DOI:
- http://dx.doi.org/10.4238/2014.June.17.1
Antioxidant effect of haptoglobin phenotypes against DNA damage induced by hydrogen peroxide in human leukocytes
Authors: L.R.S. Moreira A.L. Miranda-Vilela I.C.R. Silva A.K. Akimoto M.N. Klautau-Guimar�£es C.K. Grisolia
Human haptoglobin is classified into three major phenotypes: Hp1-1, Hp2-1 and Hp2-2; there are two autosomal alleles Hp*1 and Hp*2, and the Hp*1 allele has two subtypes, Hp*1F and Hp*1S. Haptoglobin acts as an antioxidant, preventing hemoglobin-driven oxidative damage. We used the comet assay to examine oxidative damage to DNA.. Read More»
- Genet. Mol. Res. 8(1):
- vol8-1gmr569
- DOI:
- 10.4238/vol8-1gmr569
Comparative analysis of platelet 5-HT concentrations in Han and Li patients with post-traumatic stress disorder
Authors: L. Li M.X. Li, L.H. Pan, G.M. Wang, M. Guo, L.Q. Fu, J.C. Guo, Y.S. Gao, F. Chen and M.X. Xie
We investigated the role of serotonin (5-HT) in the pathogenesis of post-traumatic stress disorder (PTSD) by determining the platelet 5-HT concentrations in Li and Han patients with PTSD in Hainan Province, China. Li and Han control groups of the same sample size have no statistical differences in gender and age distribution compared to those in the PTSD .. Read More»
- Genet. Mol. Res. 15(3):
- gmr.15038265
- DOI:
- 10.4238/gmr.15038265
Discovery of somatic mutations in the progression of chronic myeloid leukemia by whole-exome sequencing
Authors: Y. Huang, J. Zheng, J.D. Hu, Y.A. Wu, X.Y. Zheng, T.B. Liu and F.L. Chen
We performed whole-exome sequencing in samples representing accelerated phase (AP) and blastic crisis (BC) in a subject with chronic myeloid leukemia (CML). A total of 12.74 Gb clean data were generated, achieving a mean depth coverage of 64.45 and 69.53 for AP and BC samples, respectively, of the target region. A total of 148.. Read More»
- Genet. Mol. Res. 13(1):
- 2014.February.19.5
- DOI:
- 10.4238/2014.February.19.5
Relationship of polymorphisms in the cholesteryl ester transport protein gene R451Q with coronary heart disease and diabetes in Uyghur and Han Chinese
Authors: C.J. Zhang, H.M. Qiu and J.P. Qiu
To investigate the relationship of polymorphisms in the cholesteryl ester transport protein (CETP) gene with coronary heart disease (CHD) and diabetes in subjects of Uyghur and Han Chinese origin, 266 subjects with CHD including 154 subjects with type 2 diabetes mellitus and 136 healthy subjects (as a control group) were enrol.. Read More»
- Genet. Mol. Res. 13(1):
- 2014.February.19.6
- DOI:
- 10.4238/2014.February.19.6
Lack of association between RANTES-28, SDF-1 gene polymorphisms and systemic lupus erythematosus in the Malaysian population
Authors: L.-H. Lian, B.-P. Kee, H.-L. Ng and K.-H. Chua
Regulated on activation, normal T-cell expressed and secreted (RANTES) and stromal cell-derived factor 1 (SDF-1) are members of the CC- and CXC-chemokine families, respectively. Both genes have been postulated to be involved in the pathogenesis of systemic lupus erythematosus (SLE). We analyzed position 28 of the RANTES gene p.. Read More»
- Genet. Mol. Res. 10(4):
- 2011.November.17.2
- DOI:
- 10.4238/2011.November.17.2
Successful preimplantation genetic aneuploidy screening in Turkish patients
Authors: N. Ercelen, E. Turtar, M. Gultomruk, H. Comert, H. Coskun, R. Mercan and A. Nuhoglu
Preimplantation genetic diagnosis is a preventive approach for identifying genetic abnormalities in early stages of reproduction. We used preimplantation genetic aneuploidy screening in 230 cycles of patients with indications of advanced maternal age, recurrent implantation failure, recurrent spontaneous abortions, or severe m.. Read More»
- Genet. Mol. Res. 10(4):
- 2011.November.17.6
- DOI:
- 10.4238/2011.November.17.6