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Human Genetics   Research Article

Association of genetic variations in the ACLY gene with growth traits in Chinese beef cattle

Authors: M.N. Li, X. Guo, P.J. Bao, X.Y. Wu, X.Z. Ding, M. Chu, C.N. Liang and P. Yan

ATP citrate lyase (ACLY) is the primary enzyme responsible for the synthesis of cytosolic acetyl-CoA, which is a key precursor of both fatty acid and mevalonate synthesis pathways. Genetic variation of the ACLY gene may influence multiple traits associated with animal production. Here, we identified three non-synonymous mutati.. Read More»

Genet. Mol. Res. 15(2):
gmr.15028250
DOI:
10.4238/gmr.15028250
Human Genetics   Research Article

Meta-analysis of IL-6 -174G/C polymorphism and psoriasis risk

Authors: G. Nie, C.L. Xie, Y.J. Cao, M.M. Xu, X. Shi, A.L. Zou and J.H. Qi

Previous studies examining the association between interleukin-6 (IL-6) -174G/C polymorphism and psoriasis risk have produced inconsistent results. The aim of this study was to offer a comprehensive review of the association between IL-6 -174G/C polymorphism and psoriasis risk through a meta-analysis. Literature search of PubM.. Read More»

Genet. Mol. Res. 15(2):
gmr.15028255
DOI:
10.4238/gmr.15028255
Human Genetics   Research Article

Notification of Huntington�s disease as primary cause of death in Brazil from 1984 to 2008

Authors: I.P. Vaz and C.L.A. Paiva

The aim of this article was to conduct a retrospective observational study on reported deaths due to Huntington’s disease (HD) in Brazil in the past 25 years (from 1984 to 2008). Data were obtained from the Brazilian Mortality Information System (SIM/DATASUS), the official system of Brazilian Mortality Database. The data.. Read More»

Genet. Mol. Res. 15(2):
gmr.15028257
DOI:
10.4238/gmr.15028257
Human Genetics   Research Article

Splicing mutation of a gene within the Duchenne muscular dystrophy family

Authors: Y.B. Zhu, J.H. Gan, J.W. Luo, X.Y. Zheng, S.C. Wei and D. Hu

The aim of this study was to identify the mutation site and phenotype of the Duchenne muscular dystrophy (DMD) gene in a DMD family. The DMD gene is by far the largest known gene in humans. Up to 34% of the point mutations reported to date affect splice sites of the DMD gene. However, no hotspot mutation has been reported. Cap.. Read More»

Genet. Mol. Res. 15(2):
gmr.15028258
DOI:
10.4238/gmr.15028258
Human Genetics   Research Article

Complete mitochondrial genome of the Liuyang black goat and its phylogenetic relationship with other Caprinae

Authors: S. Chen, H.M. Ma, G.S. Chen and L.Y. Wang

In this study, the complete mitochondrial genome sequence of the Liuyang black goat was investigated, and phylogenetic relationships between the Liuyang black goat and other species of Caprinae were analyzed. The total length of the mitochondrial genome was 16,715 bp, which consisted of 33.50% A, 27.27% T, 25.98% C, and 13.25%.. Read More»

Genet. Mol. Res. 15(2):
gmr.15028267
DOI:
10.4238/gmr.15028267
Animal Genetics   Research Article

Genetic effect of an A/G polymorphism in the HSP70 gene on thermotolerance in chicken

Authors: Z.Y. Chen, W.W. Zhang, J.K. Gan, L.N. Kong, X.Q. Zhang,D.X. Zhang and Q.B. Luo

Studying thermotolerance is important for the prevention of thermostress in chickens. This study aimed to analyze the effect of mutations in the heat shock protein 70 (HSP70) gene on chicken thermotolerance. The C.-69A>G SNP in the 5'-flanking region of the HSP70 gene was genotyped in Lingshan and White Recessive Rock (WRR).. Read More»

Genet. Mol. Res. 15(2):
gmr.15028271
DOI:
10.4238/gmr.15028271
Human Genetics   Research Article

Correlation between hepatitis B virus DNA levels and diagnostic tests for HBsAg, HBeAg, and PreS1-Ag in chronic hepatitis B

Authors: X. Liu, J.M. Chen, J.L. Lou, Y.X. Huang, Y. Yan, G.Z. Sun and N. Li

he aim of this study was to investigate the diagnostic value of the serum markers HBsAg and HBeAg and PreS1 protein (PreS1-Ag) in quantifying the levels of hepatitis B virus (HBV) DNA in patients with chronic hepatitis B (CHB). One thousand CHB patients were recruited from Beijing You’an Hospital between June and Decembe.. Read More»

Genet. Mol. Res. 15(2):
Human Genetics   Research Article

Effect of the house dust mite allergen Der p 1 on tryptase release from human mast cells

Authors: D.Q. Wang, Y.Y. Shen, J.H. Xu and H. Tang

This study aimed to investigate the effects of the house dust mite allergen Der p 1 on the secretion of tryptase from the human mast cell line HMC-1. Flow cytometry was used to determine the expression levels of protease-activated receptor-2 (PAR2) on the surface of HMC-1 cells. HMC-1 cells were treated with Der p 1, SLIGRL-NH.. Read More»

Genet. Mol. Res. 15(2):
gmr.15028284
DOI:
10.4238/gmr.15028284
Human Genetics   Research Article

A comprehensive review of microRNA-related polymorphisms in gastric cancer

Authors: B.W. Han Z.H. Li, S.F. Liu, H.B. Han, S.J. Dong, H.J. Zou,R.F. Sun and J. Jia

MicroRNAs (miRNAs) are a class of small non-coding RNA molecules of about 22 nucleotides in length. miRNAs are highly conserved in both plants and animals, and function as gene regulators by binding to the 3'-untranslated region of target mRNAs for cleavage and/or translational repression. miRNA biogenesis, stability, and regu.. Read More»

Genet. Mol. Res. 15(2):
gmr.15028289
DOI:
10.4238/gmr.15028289
Human Genetics   Research Article

Hemoglobin (Hb) Val de Marne (Hb Footscray) in Brazil: the first case report

Authors: J.V. Okumura, E.L.T. Shimauti, D.G.H. Silva, L.S. Torres,E. Belini-Junior, R.G. Oliveira, E.V. Patussi, J.C.M. Herrero and C.R. Bonini-Domingos

Hemoglobin (Hb) variants involving alpha-chains are less common in the global population than Hb variants resulting from beta-chain alterations. Generally, alpha-chain Hb variants are caused by point mutations affecting alpha-1 and/or alpha-2 genes of the alpha-globin cluster (HBA1 and HBA2). In Brazil, the most prevalent alph.. Read More»

Genet. Mol. Res. 15(2):
gmr.15028294
DOI:
10.4238/gmr.15028294