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Variant

Human Genetics   Research Article

Influence of the c.1517G>C genetic variant in the XRCC1 gene on pancreatic cancer susceptibility in a Chinese population

Authors: Z.M. Zhao, C.G. Li, M.G. Hu, Y.X. Gao and R. Liu

We investigated the influence of the c.1517G>C genetic variant in the X-ray repair complementing group 1 gene (XRCC1) on pancreatic cancer (PC) susceptibility in Chinese patients. A total of 390 PC patients and 392 controls were enrolled in this case-control study. The genotypes of c.1517G>C genetic variants were determi.. Read More»

Genet. Mol. Res. 13(2):
Animal Genetics   Research Article

Molecular characterization and tissue-specific expression of invariant chain in the muscovy duck (Cairina moschata)

Authors: S.J. Liu, F.F. Chen, Y. Dai, C. Wu, Q.S. Ni and W.Y. Yu

The invariant chain (Ii) plays an important role as a chaperone for MHC II maturation and facilitates antigen presentation in vertebrates. We cloned, characterized and made a homology analysis of healthy adult muscovy duck Ii (MDIi), from a poultry farm in the suburban district of Hefei city in China, by rapid amplification of.. Read More»

Genet. Mol. Res. 10(4):
Animal Genetics   Research Article

Molecular cloning, expression and variation analyses of the dopamine D2 receptor gene in pig breeds in China

Authors: H.P. Xu, X.M. He, M.X. Fang, Y.S. Hu, X.Z. Jia, Q.H. Nie and X.Q. Zhang

The dopamine D2 receptor (DRD2) is a crucial mediator for normal physiological processes. We cloned the pig DRD2 gene, investigated its distribution in tissues and identified polymorphisms by RT-PCR, quantitative real-time PCR and direct sequencing. Two Yorkshire pigs from Guangdong Academy of Agricultural Sciences (Guangzhou,.. Read More»

Genet. Mol. Res. 10(4):
2011.December.5.6
DOI:
10.4238/2011.December.5.6
Animal Genetics   Research Article

Localization and expression of histone H2A variants during mouse oogenesis and preimplantation embryo development

Authors: B.J. Wu, F.L. Dong, X.S. Ma, X.G. Wang, F. Lin and H.L. Liu

Epigenetic modifications of the genome, such as histone H2A variants, ensure appropriate gene activation or silencing during oogenesis and preimplantation embryo development. We examined global localization and expression of the histone H2A variants, including H2A.Bbd, H2A.Z and H2A.X, during mouse oogenesis and preimplantatio.. Read More»

Genet. Mol. Res. 13(3):
2014.August.7.8
DOI:
10.4238/2014.August.7.8
Medical Genetics   Research Article

Expression of a novel splicing variant of Pcp2 in closely related laboratory rodents

Authors: M.A. PrzybyÃ?Â?a, M.M. Nowacka-Chmielewska and J.J. Barski

Purkinje cell protein-2 (PCP2), also known as L7, is a member of the GoLoco protein family with highly cell-specific expression, being restricted to cerebellar Purkinje cells and retinal bipolar neurons in various species. However, its function in these tissues is unknown. Previous studies have suggested that PCP2 is a guanine nucleotide dissociation inhi.. Read More»

Genet. Mol. Res. 15(3):
gmr.15038228
DOI:
10.4238/gmr.15038228
Medical Genetics   Research Article

Utilization of different methodologies for the characterization of Hb Hasharon heterozygotes

Authors: A.R. Chinelato-Fernandes, C.F. Mendiburu and C.R. Bonini-Domingos

Hb Hasharon has an electrophoretic mobility similar to that of Hb S in cellulose acetate and a mobility between Hb S and C at acid pH. In high-performance liquid chromatography, Hb Hasharon shows a distinct chromatographic profile and retention time. The origin of this variant is a mutation in codon 47 (GAC → CAC) of the .. Read More»

Genet. Mol. Res. 5(1):
Animal Genetics   Research Article

Luteinizing hormone receptor splicing variants in bovine Leydig cells

Authors: T.H. Ma, Q.H. Xiong, B. Yuan, H. Jiang, Y. Gao, J.B. Xu, S.Y. Liu, Y. Ding, G.L. Zhang, Y.M. Zhao and J.B. Zhang

The luteinizing hormone receptor (LHR) plays a key role in testosterone production through its interaction with the gonadotropins, LH and chorionic gonadotropin. We examined the LHR splicing pattern in bovine Leydig cells; LH-induced expression of eight cloned splicing variants was detected by real-time PCR. Luteinizing hormon.. Read More»

Genet. Mol. Res. 11(2):
http://dx.doi.org/2012.June.29.4
DOI:
http://dx.doi.org/10.4238/2012.June.29.4
Human Genetics   Research Article

Genetic variants on 17q21 are associated with asthma in a Han Chinese population

Authors: F.-X. Li, J.-Y. Tan, X.-X. Yang, Y.-S. Wu, D. Wu and M. Li

A genome-wide study has shown an association between SNPs located on 17q21 and asthma. Such associations have been identified in several populations, but little is known about the Han Chinese population. We conducted a case-control study in a Han Chinese population to investigate the relationship between SNPs located on 17q21 .. Read More»

Genet. Mol. Res. 11(1):
2012.February.10.5
DOI:
10.4238/2012.February.10.5
Human Genetics   Research Article

Sequence variants in the bovine PRDM16 gene associated with body weight in Chinese cattle breeds

Authors: J. Wang, C. Wang, R. Tian, Y.-Z. Huang, X.-S. Lai, X.-Y. Lan, J.-Q. Wang and H. Chen

As a zinc-finger protein, PR domain containing 16 (PRDM16) controls brown fat determination by stimulating brown fat cell production while suppressing the expression of genes for production of white fat cells; mutations in this domain are associated with myelodysplastic syndrome and leukemogenesis. In our study, polymorphisms .. Read More»

Genet. Mol. Res. 11(1):
2012.March.22.5
DOI:
10.4238/2012.March.22.5
Medical Genetics   Research Article

Association of the g.19074G>A genetic variant in the osteoprotegerin gene with bone mineral density in Chinese postmenopausal women

Authors: Y.D. Zhang, Z. Zhang, N.F. Zhou, W.T. Jia, X.G. Cheng and X.J. Wei

Primary osteoporosis is a common health problem in postmenopausal women. This study aimed to detect the association of the g.19074G>A genetic variant in the osteoprotegerin gene (OPG) with bone mineral density (BMD) and primary osteoporosis. The created restriction site-polymerase chain reaction method was used to .. Read More»

Genet. Mol. Res. 13(3):
2014.August.28.9
DOI:
10.4238/2014.August.28.9