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Human Genetics

Human Genetics   Research Article

Analysis of genetic diversity of a native population of Myrcia lundiana Kiaersk. plants using ISSR markers

Authors: M.F. Alves, D.A.C. Nizio, F.A. Brito, T.S. Sampaio, A.V.C. Silva, M.F. Arrigoni-Blank, S.V.A. Carvalho and A.F. Blank

Myrcia lundiana Kiaersk. is a tree of the family Myrtaceae found in tropical and subtropical areas of the southern hemisphere that produces essential oil. The aim of this study was to characterize the genetic diversity of M. lundiana plants from a native population of Parque Nacional de Itabaiana, using inter-simple sequence r.. Read More»

Genet. Mol. Res. 15(4):
gmr15049198
DOI:
10.4238/gmr15049198
Human Genetics   Research Article

A de novo 2q35-q36.1 deletion incorporating IHH in a Chinese boy (47,XYY) with syndactyly, type III Waardenburg syndrome, and congenital heart disease

Authors: D. Wang, G.F. Ren, H.Z. Zhang, C.Y. Yi and Z.J. Peng

Reports of terminal and interstitial deletions of the long arm of chromosome 2 are rare in the literature. Here, we present a case report concerning a Chinese boy with a 47,XYY karyotype and a de novo deletion comprising approximately 5 Mb between 2q35 and q36.1, along with syndactyly, type III Waardenburg syndrome, and congen.. Read More»

Genet. Mol. Res. 15(4):
gmr15049060
DOI:
10.4238/gmr15049060
Human Genetics   Research Article

Low-level trisomy 14 mosaicism in a male newborn with ectrodactyly

Authors: M.A. Rodrigues, L.F. Morgade, L.F.A. Dias, R.V. Moreira, P.D. Maia, A.F.H. Sales and P.D. Ribeiro

Complete trisomy 14 mosaicism is a rare chromosome disorder and was first reported in 1970. We describe a case of a male neonate who presented complete trisomy 14 mosaicism in only 4% of the cells from peripheral blood. A nineteen-day-old male neonate was born as result of the second pregnancy. The infant was delivered by cesa.. Read More»

Genet. Mol. Res. 15(4):
gmr15049275
DOI:
10.4238/gmr15049275
Human Genetics   Research Article

Genetic polymorphism at the KIR gene locus: determination of gene, genotype, and haplotype frequencies in the Xinjiang Han population

Authors: G.-Y. Lin, B. Yu, W.-J. Hu, Y.-Z. Zhang, X.-J. Zuo and Y.-B. Wang

The aim of this study was to explore the genetic polymorphism, genotype, and haplotype characteristics of the KIR locus in the Xinjiang Han population in order to establish a foundation for future analysis of the relationship between KIR genes and disease. KIR genes were detected by sequence-specific primer-polymerase chain reaction in 184 randomly select.. Read More»

Genet. Mol. Res. 14(2):
2015.June.9.7
DOI:
10.4238/2015.June.9.7
Human Genetics   Research Article

Roles of ERĂ?± and ERĂ?² in estrogen-induced DDP chemoresistance in non-small cell lung cancer

Authors: N. Yu, L. Dou, Y. Li, L. Deng, X. Wei and Y. Guo

The role of estrogen in inducing chemoresistance is not yet fully understood. The objective of this study was to observe the relationship between estrogen levels and cellular response to chemotherapeutic drugs in non-small cell lung cancer (NSCLC) and to reveal the potential mechanisms involved. Cell viability was analyzed after pre-treating NSCLC cells w.. Read More»

Genet. Mol. Res. 15(3):
gmr.15038995
DOI:
10.4238/gmr.15038995
Human Genetics   Research Article

Expression and distribution of SP and its NK1 receptor in the brain-gut axis in neonatal maternally separated rat model with visceral hypersensitivity

Authors: W. Teng, H. Chen, F. Guo, X. Du, X. Fu, Y. Fang, H. Zhang, M. Fang and M. Ding

Neurokinin-1 receptor (NK1R) is a high affinity Substance P (SP) receptor and plays a key role in visceral hypersensitivity in irritable bowel syndrome (IBS). Early life stress is a significant risk factor in IBS. The aim of the present study was to investigate the influence of neonatal maternal separation on the expression and distribution of SP and its .. Read More»

Genet. Mol. Res. 15(3):
gmr.15038999
DOI:
10.4238/gmr.15038999
Human Genetics   Research Article

Enhancement of dendritic cells with melanoma-associated antigen 3 for inducing cytotoxicity by cytotoxic T lymphocytes on bladder cancer BIU-87 cells

Authors: X.Z. Li, Y. Han, J. Tian, X. Ren, X. Ma and M. Ma

To determine the cytotoxic effect of lymphocytes activated by melanoma-associated antigen 3 (MAGE-3)-sensitized dendritic cells (DCs) on BIU-87 tumor cells, and to evaluate thepossibility of MAGE-3-peptide-pulsed DCs as a vaccine in bladder cancer immunotherapy, the proliferation of T cells and the activity of cytotoxic T lymphocytes (CTLs) were examined .. Read More»

Genet. Mol. Res. 15(3):
gmr.15039001
DOI:
10.4238/gmr.15039001
Human Genetics   Research Article

Using Markov chains of nucleotide sequences as a possible precursor to predict functional roles of human genome: a case study on inactive chromatin regions

Authors: K.-E. Lee, E.-J. Lee, and H.-S. Park

Recent advances in computational epigenetics have provided new opportunities to evaluate n-gram probabilistic language models. In this paper, we describe a systematic genome-wide approach for predicting functional roles in inactive chromatin regions by using a sequence-based Markovian chromatin map of the human genome. We demonstrate that Markov chains of.. Read More»

Genet. Mol. Res. 15(3):
gmr.15039004
DOI:
10.4238/gmr.15039004
Human Genetics   Research Article

Equine chorionic gonadotropin influence on sheep oocyte in vitro maturation, apoptosis, and follicle-stimulating hormone receptor and luteinizing hormone receptor expression

Authors: S.C. Wei, Z.D. Gong, H.W. Zhao, H.Q. Liang, L.J. Lai and Y.Y. Deng

We assessed the effects of equine chorionic gonadotropin (eCG) on oocyte in vitro maturation (IVM), apoptosis, and follicle-stimulating hormone receptor (FSHR), luteinizing hormone receptor (LHR), and gonadotropin-releasing hormone receptor (GnRHR) expression and mRNA levels. Cumulus-oocyte complexes (COCs) were recovered from.. Read More»

Genet. Mol. Res. 15(4):
gmr15049162
DOI:
10.4238/gmr15049162
Human Genetics   Research Article

Translocation breakpoints of chromosome 4 in male carriers: clinical features and implications for genetic counseling

Authors: H.G. Zhang, R.X. Wang, Y. Pan, J.H. Zhu, L.T. Xue, X. Yang and R.Z. Liu

Cytogenetic analysis remains a powerful and cost-effective technology, and has wide applicability in genetic counseling for infertile males. Chromosomal rearrangements are thought to be one of the major genetic factors that influence male infertility. Some carriers with balanced reciprocal translocation have been identified as.. Read More»

Genet. Mol. Res. 15(4):
gmr15049088
DOI:
10.4238/gmr15049088