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Polymorphism

Animal Genetics   Research Article

Polymorphisms of the Osteocrin gene and its association with meat quality traits in Qinchuan cattle

Authors: Y.F. Huangfu, L.S. Zan, C. Adoligbe, H.B. Wang, H. Wang and J.B. Gao

Here, we detected 2 SNPs, A85C and T335C, that were located on the 3rd exon and the 3 untranslated regions of the bovine Osteocrin gene, respectively, using 413 Qinchuan cattle DNA samples. PCR-SSCP and DNA sequencing methods were specifically used. Three genotypes (AA, AC, and CC) were found at A85C; yet, only 2 genotypes (TC and CC) were found at T335C... Read More»

Genet. Mol. Res. 14(2):
2015.May.11.21
DOI:
10.4238/2015.May.11.21
Medical Genetics   Research Article

Significance of sarcomere gene mutation in patients with dilated cardiomyopathy

Authors: Y.D. Li, Y.T. Ji, X.H. Zhou, H.L. Li, H.T. Zhang, Y. Zhang,J.X. Li, Q. Xing, J.H. Zhang, Y.F. Hong and B.P. Tang

Dilated cardiomyopathy (DCM) is a myocardial disease with a high mortality rate. Approximately 40 genes have been found to be associated with DCM to date. Non-familial DCM can also be caused by gene mutations, suggesting that genetic factors were involved in the pathogenesis of DCM; therefore genetic testing is beneficial for the early diagnosis of DCM, w.. Read More»

Genet. Mol. Res. 14(3):
http://dx.doi.org/2015.September.22.14
DOI:
http://dx.doi.org/10.4238/2015.September.22.14
Human Genetics   Research Article

Primary open angle glaucoma was not found to be associated with p53 codon 72 polymorphism in a Brazilian cohort

Authors: R.E. Silva J.T. Arruda F.W. Rodrigues K.K.V.O. Moura

Genet. Mol. Res. 8(1):
vol8-1gmr578
DOI:
10.4238/vol8-1gmr578
Human Genetics   Research Article

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
Medical Genetics   Research Article

Investigation of ERCC1 and ERCC2 gene polymorphisms and response to chemotherapy and overall survival in osteosarcoma

Authors: Q. Zhang, L.Y. Lv, B.J. Li, J. Zhang and F. Wei

We assessed the role of single nucleotide polymorphisms (SNPs) in ERCC1 and ERCC2 genes in the clinical outcomes for osteosarcoma patients receiving cisplatin-based treatment. A perspective study was conducted on 260 patients with osteosarcoma during 2010 and 2011. A polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP) assay was u.. Read More»

Genet. Mol. Res. 14(3):
http://dx.doi.org/2015.September.22.17
DOI:
http://dx.doi.org/10.4238/2015.September.22.17
Human Genetics   Research Article

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
Human Genetics   Research Article

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
Human Genetics   Research Article

Genetic association of UBE2B variants with susceptibility to male infertility in a Northeast Chinese population

Authors: Genetic association of UBE2B variants with susceptibility to male infertility in a Northeast Chinese population

The ubiquitin-conjugating enzyme 2B gene (UBE2B) is involved in the regular and symmetric organization of the fibrous sheath of sperm flagella. This study aimed to examine the relationship between single nucleotide polymorphisms (SNPs) in UBE2B and infertility in Northeast Chinese men. We carried out a polymerase chain reaction-restriction fragment length po.. Read More»

Genet. Mol. Res. 11(4):
2012.September.12.2
DOI:
10.4238/2012.September.12.2
Human Genetics   Research Article

The role of �±-satellite DNA and heterochromatin polymorphism in leukemia patients and illicit drug addicts

Authors: A. Movafagh, S.A. Mortazavi-Tabatabaei and A.A. Kolahi

Heterochromatin is considered to play a role in protecting the genome against mutagens. Changes in the quantity and proportion of different types of satellite DNA could increase genetic susceptibility in individuals with heterochromatic variations; they cause chromosome instability and predispose patients to malignancies. We e.. Read More»

Genet. Mol. Res. 10(4):
2001.November.25.3
DOI:
10.4238/2001.November.25.3
Medical Genetics   Research Article

Meta-analysis demonstrates no association between p53 codon 72 polymorphism and prostate cancer risk

Authors: M.S. Li, J.L. Liu, Y. Wu, P. Wang and H. Teng

We examined whether p53 codon 72 polymorphism confers prostate cancer risk by conducting a meta-analysis. Two investigators independently searched the Pubmed, Embase and CBM databases. This meta-analysis was made of seven case-control studies, that included 892 prostate cancer cases and 1020 healthy controls. Meta-analysis res.. Read More»

Genet. Mol. Res. 10(4):
2011.November.29.3
DOI:
10.4238/2011.November.29.3