Human Genetics
Analysis of �±1 and �±2 globin genes among patients with hemoglobin Adana in Malaysia
Authors: T.Y. Lee, M.I. Lai, P. Ismail, V. Ramachandran, J.A.M.A. Tan, L.K. Teh,R. Othman, N.H. Hussein and E. George
Hemoglobin (Hb) Adana [HBA2: c179G>A (or HBA1); p.Gly60Asp] is a non-deletional α-thalassemia variant found in Malaysia. An improvement in the molecular techniques in recent years has made identification of Hb Adana much easier. For this study, a total of 26 Hb Adana α-thalassemia intermedia and 10 Hb Adana trai.. Read More»
- Genet. Mol. Res. 15(2):
- gmr.15027400
- DOI:
- 10.4238/gmr.15027400
NF1 frameshift mutation (c.6520_6523delGAGA) association with nervous system tumors and bone abnormalities in a Chinese patient with neurofibromatosis type 1
Authors: S.Y. Su, X. Zhou, X.M. Pang, C.Y. Chen, S.H. Li and J.L. Liu
Neurofibromatosis type 1, also known as NF1 or von Recklinghausen’s disease, is a common neurocutaneous syndrome that presents with multiple café-au-lait patches, skinfold freckling, dermatofibromas, neurofibromas, and Lisch nodules. The mutations of the gene NF1, encoding the protein neurofibromin, have been iden.. Read More»
- Genet. Mol. Res. 15(2):
- gmr.15027572
- DOI:
- 10.4238/gmr.15027572
MMP-9 genetic polymorphism may confer susceptibility to COPD
Authors: S. Jiang, Z.H. Yang, Y.Y. Chen, Z. He, Y. Zhou, Y. Gao, Q. Zhang and M.Q. Tan
Correlations between genetic polymorphisms of three matrix metalloproteinase (MMP) genes and susceptibility to chronic obstructive pulmonary disease (COPD) were investigated. Relevant case-control studies were selected using rigorous inclusion and exclusion criteria. The comprehensive Meta-analysis 2.0 software was used to con.. Read More»
- Genet. Mol. Res. 15(2):
- gmr.15026272
- DOI:
- 10.4238/gmr.15026272
Characterization of grass carp spleen transcriptome during GCRV infection
Authors: B.H. Xu, L. Zhong, Q.L. Liu, T.Y. Xiao, J.M. Su, K.J. Chen, H.Q. Wang, Y.J. Dai and J. Chen
The aim of the study was to investigate the grass carp hemorrhagic infection pathway and its key-related genes. Grass carp reovirus (GCRV) might cause hemorrhagic disease in grass carps. Healthy grass carp fingerlings (N = 60) were divided into control and infected groups. Fish in the control group were intraperitoneally (ip) .. Read More»
- Genet. Mol. Res. 15(2):
- gmr.15026650
- DOI:
- 10.4238/gmr.15026650
Prediction efficiency of PITX2 DNA methylation for prostate cancer survival
Authors: Z.M. Luan, H. Zhang and X.L. Qu
This study determined the level of PITX2 methylation in prostate cancer and benign tissues and its relationship with the postoperative survival rate. Forty-four patients with prostate cancer who underwent radical prostatectomy and 43 patients with benign prostatic hyperplasia were selected. DNA was extracted from the tissues a.. Read More»
- Genet. Mol. Res. 15(2):
- gmr.15026750
- DOI:
- 10.4238/gmr.15026750
Variations in genotype-phenotype correlations in phenylketonuria patients
Authors: L.L. Santos, C.G. Fonseca, A.L.P. Starling, J.N. Janu�¡rio, M.J.B. Aguiar, M.G.C.D. Peixoto and M.R.S. Carvalho
Phenylalanine hydroxylase deficiency is a trait inherited in an autosomal recessive pattern; the associated phenotype varies considerably. This variation is mainly due to the considerable allelic heterogeneity in the phenylalanine hydroxylase enzyme locus. We examined the genotype-phenotype correlation in 54 phenylketonuria (P.. Read More»
- Genet. Mol. Res. 9(1):
- vol9-1gmr670
- DOI:
- 10.4238/vol9-1gmr670
Association between RASSF1A promoter methylation and renal cell cancer susceptibility: a meta-analysis
Authors: Y.Q. Huang, H. Guan, C.H. Liu,D.C. Liu, B. Xu, L. Jiang, Z.X. Lin and M. Chen
Epigenetic inactivation of Ras-associated domain family 1A (RASSF1A) by hyper-methylation of its promoter region has been identified in various cancers. However, the role of RASSF1A in renal cancer has neither been thoroughly investigated nor reviewed. In this study, we reviewed and performed a meta-analysis of 13 published st.. Read More»
- Genet. Mol. Res. 15(2):
- gmr.15026994
- DOI:
- 10.4238/gmr.15026994
Comparison of the antiplatelet effect of clopidogrel benzene sulfonate and clopidogrel hydrogen sulfate in stable coronary heart disease
Authors: S.H. Wang, X. Li, F.L. Hou, Y.J. Tian, Y.H. Liu and S.L. Zheng
Clopidogrel hydrogen sulfate (CHS) is a thienopyridine, which can be used to prevent cardiovascular complications alone or in combination with acetyl salicylic acid as an important antiplatelet agent. Clopidogrel benzene sulfonate (CB) is a special clopidogrel salt that can be used as a conventional drug for antiplatelet effec.. Read More»
- Genet. Mol. Res. 15(2):
- gmr.15027136
- DOI:
- 10.4238/gmr.15027136
Toll-like receptor-4-dependence of the lipopolysaccharide-mediated inhibition of osteoblast differentiation
Authors: Y.H. Liu, D. Huang, Z.J. Li, X.H. Li, X. Wang, H.P. Yang, S.P. Tian, Y. Mao, M.F. Liu, Y.F. Wang, Y. Wu and X.F. Han
Bone fractures or bones subjected to open conduction and internal fixation are easily infected by bacteria; bacterial lipopolysaccharide (LPS) has been recognized as an important pathogenic factor affecting bone fracture healing. Therefore, the effect of LPS on bone metabolism is relevant for bone healing. In this study, we in.. Read More»
- Genet. Mol. Res. 15(2):
- gmr.15027191
- DOI:
- 10.4238/gmr.15027191
Investigating the recheck rules for urine analysis in children
Authors: Y.M. He, S.W. Yao, Y.J. Huang, B.S. Liang and H.Y. Liu
The aim of this study was to establish recheck rules of urinalysis in children by investigating the concordance rate of the results obtained using the LabUMat urine dry chemistry analyzer (referred to as dry chemistry) and the UriSed tangible composition analyzer with that of the microscopic examination. First, 1040 urine samp.. Read More»
- Genet. Mol. Res. 15(2):
- gmr.15027349
- DOI:
- 10.4238/gmr.15027349