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Human Genetics

Human Genetics   Research Article

Microsatellite markers reveal genetic divergence among wild and cultured populations of Chinese sucker Myxocyprinus asiaticus

Authors: W.W. Cheng, D.Q. Wang, C.Y. Wang, H. Du and Q.W. Wei

Studies of genetic diversity and genetic population structure are critical for the conservation and management of endangered species. The Chinese sucker Myxocyprinus asiaticus is a vulnerable monotypic species in China, which is at a risk of decline owing to fluctuations in effective population size and other demographic and e.. Read More»

Genet. Mol. Res. 15(2):
gmr.15027581
DOI:
10.4238/gmr.15027581
Human Genetics   Research Article

Description of the pre-reductional sex chromosome during male meiosis of Pachylis laticornis (Heteroptera: Coreidae)

Authors: C.A. Banho, K.C.C. Alevi, L.L.V. Pereira, T.S. Souza-Firmino and M.M. Itoyama

In Heteroptera, the division of sex chromosomes is well defined as post-reductional for most of species, i.e., the first meiotic division is equational and the second is reductional. However, in some species pre-reductional division has been observed, whereby the first meiotic division is reductional and the second is equation.. Read More»

Genet. Mol. Res. 15(2):
gmr.15027592
DOI:
10.4238/gmr.15027592
Human Genetics   Research Article

A novel splice variant of the bovine GALNTL5 gene identified in Chinese Holstein bull testis tissue and its mRNA expression

Authors: H. Li, Q. Jiang, Z.H. Ju, J.M. Huang, X.G. Wang, C.H. Yang, Y. Sun, G.W. Yang, J.F. Zhong and C.F. Wang

The polypeptide N-acetylgalactosaminyltransferase-like protein 5 (GALNTL5) is a newly identified protein that is specifically expressed in testis tissue and participates in spermatogenesis. In this study, we characterized a novel bovine GALNTL5 splice variant, designated as GALNTL5-AS, by using real-time polymerase chain react.. Read More»

Genet. Mol. Res. 15(2):
gmr.15027723
DOI:
10.4238/gmr.15027723
Human Genetics   Research Article

Development of novel SCAR markers for genetic characterization of Lonicera japonica from high GC-RAMP-PCR and DNA cloning

Authors: J.L. Cheng, J. Li, Y.M. Qiu, C.L. Wei, L.Q. Yang and J.J. Fu

Sequence-characterized amplified region (SCAR) markers were further developed from high-GC primer RAMP-PCR-amplified fragments from Lonicera japonica DNA by molecular cloning. The four DNA fragments from three high-GC primers (FY-27, FY-28, and FY-29) were successfully cloned into a pGM-T vector. The positive clones were seque.. Read More»

Genet. Mol. Res. 15(2):
gmr.15027737
DOI:
10.4238/gmr.15027737
Human Genetics   Research Article

Association of MDR1 C3435T and C1236T single nucleotide polymorphisms with male factor infertility

Authors: S.E. Aydos, A. Karada��, T. ��zkan, B. Alt�±nok, M. Bunsuz, S. Heidargholizadeh, K. Aydos and A. Sunguro��lu

Infertility affects 1 in 6 couples and approximately 1 in 25 men. Male factor infertility is a major cause of spermatogenic anomalies, the causes of which are largely unknown. Impaired reproductive functions in men might result from physiological, genetic, and/or environmental factors such as xenobiotics. The multi-drug resistance1 (MDR1) gene encodes a P.. Read More»

Genet. Mol. Res. 14(2):
2015.June.11.8
DOI:
10.4238/2015.June.11.8
Human Genetics   Case Reports

Whole-exome analysis of a child with polycystic kidney disease and ventriculomegaly

Authors: M.M. Nabhan,H. Abdelaziz,Y. Xu,R. El Sayed,M. Santibanez-Koref,N.A. Soliman and J.A. Sayer

Autosomal recessive polycystic kidney disease (ARPKD) is an inherited ciliopathy leading to progressive kidney and liver disease. Biallelic mutations in the PKHD1 gene underlie this condition. We describe a child with bilaterally enlarged cystic kidneys, portal hypertension, and cerebral ventriculomegaly. Molecular genetic investigations using whole-exome.. Read More»

Genet. Mol. Res. 14(2):
http://dx.doi.org/2015.April.17.11
DOI:
http://dx.doi.org/10.4238/2015.April.17.11
Human Genetics   Research Article

Positive association between PPARD rs2016520 polymorphism and coronary heart disease in a Han Chinese population

Authors: H.D. Ye, Y.R. Li, Q.X. Hong, A.N. Zhou, Q.L. Zhao, L.M. Xu, M.Q. Xu, X.T. Xu, L.L. Tang, D.J. Dai, D.J. Jiang, Y. Huang,D.W. Wang and S.W. Duan

PPARD encodes peroxisome proliferator-activated receptor delta, which has been shown to play an important role in controlling lipid metabolism and atherosclerosis. In this case-control study, we explored the relationship between PPARD rs2016520 polymorphism and coronary heart disease (CHD) in a Han Chinese population. A total of 657 CHD cases and 640 cont.. Read More»

Genet. Mol. Res. 14(2):
2015.June.11.10
DOI:
10.4238/2015.June.11.10
Human Genetics   Research Article

Polymorphisms in the nuclear factor kappa B gene association with recurrent embryo implantation failure

Authors: L. Luo, D.H. Li, X.P. Li, S.C. Zhang, C.F. Yan, J.F. Wu, Y.H. Qi and J. Zhao

Despite more than a century of intensive study, the mechanisms of successful pregnancy remain unclear. Recent research suggests that NF-κB (nuclear factor kappa B) plays an important role in embryo implantation. In the current study, we aimed to identify SNPs that contribute to genetic susceptibility for recurrent implan.. Read More»

Genet. Mol. Res. 15(2):
gmr.15027759
DOI:
10.4238/gmr.15027759
Human Genetics   Research Article

DNMT3A -448A>G polymorphism and cancer risk: a meta-analysis

Authors: C.H. Liu,T. Tao1,L. Jiang1,B. Xu,L. Zhang, K. Lu,X.W. Zhang,S.Q. Chen,D.C. Liu and M. Chen

Cancer is a major public health problem worldwide that involves complex processes and factors. For instance, methylation is important in tumorigenesis. DNA (cytosine-5)-methyltransferase 3A (DNMT3A) is the main de novo methyltransferase implicated in this process. In DNMT3A, the -448A>G polymorphism is associated with cancer; however, the results of va.. Read More»

Genet. Mol. Res. 14(2):
http://dx.doi.org/2015.April.17.14
DOI:
http://dx.doi.org/10.4238/2015.April.17.14
Human Genetics   Research Article

Inhibition of human chronic myelogenous leukemia K562 cell growth following combination treatment with resveratrol and imatinib mesylate

Authors: X.J. Wang and Y.H. Li

To investigate the effect of treatment with resveratrol combined with imatinib mesylate on human chronic myelogenous leukemia K562 cell growth inhibition and apoptosis, in vitro cultured human chronic myelogenous leukemia K562 cells were incubated with different concentrations of resveratrol and imatinib mesylate when the cells were in the logarithmic pha.. Read More»

Genet. Mol. Res. 14(2):
2015.June.11.17
DOI:
10.4238/2015.June.11.17