Human Genetics
Impact of common SNPs in VEGF gene on the susceptibility of osteosarcoma
Authors: G.L. Hu, G. Ma and J.H. Ming
We conducted a case-control study to assess the role of vascular endothelial growth factor (VEGF) -634G/C, +936C/T, and +1612G/A genetic variations in the development of osteosarcoma in a Chinese population. This hospital-based case-control study examined 130 patients with osteosarcoma and 130 age- and gender-matched healthy controls from March 2011 and M.. Read More»
- Genet. Mol. Res. 14(4):
- 2015.November.18.19
- DOI:
- 10.4238/2015.November.18.19
Prenatal diagnosis of Chinese families with phenylketonuria
Authors: N. Liu1, X.D. Kong1, D.H. Zhao2, Q.H. Wu1, X.L. Li2, H.F. Guo4, L.X. Cui4,M. Jiang1 and H.R. Shi3
The aim of this study is to investigate the ability to prenatally diagnose phenylketonuria (PKU) by using phenylalanine hydroxylase (PAH) gene mutation analysis combined with short tandem repeat (STR) linkage analysis in 118 fetuses from 112 Chinese families. Genomic DNA was extracted from the peripheral blood from members of 112 families and the exons an.. Read More»
- Genet. Mol. Res. 14(4):
- 2015.November.18.25
- DOI:
- 10.4238/2015.November.18.25
Variations in WNT3 gene are associated with incidence of non-syndromic cleft lip with or without cleft palate in a northeast Chinese population
Authors: Y.P. Lu, W.T. Han, Q. Liu, J.X. Li, Z.J. Li, M. Jiang and W. Xu
Non-syndromic cleft lip with or without cleft palate (NSCL/P) is a common birth defect. Several WNT genes are involved in craniofacial embryogenesis, and therefore may play an important role in the etiology of NSCL/P. Two SNPs (rs3809857 and rs9890413) in the WNT3 gene were subjected to case-control and case-parent analysis by.. Read More»
- Genet. Mol. Res. 14(4):
- 2015.October.19.8
- DOI:
- 10.4238/2015.October.19.8
Detection and sequence analysis of the DNA repair gene RAD51 in the Korean spider Callobius koreanus (Amaurobiidae)
Authors: J.Y. Kim and Y.C. Park
We identified a partial sequence (483 bp) of the RAD51 gene from the Korean spider Callobius koreanus. Sequence variation was found at one position during alignment with the human RAD51 gene sequence. This partial sequence included the region corresponding to exon 4 in the human RAD51 gene, which encodes 39 amino acids. These results show that the RAD51 g.. Read More»
- Genet. Mol. Res. 14(4):
- 2015.November.18.28
- DOI:
- 10.4238/2015.November.18.28
Spectrum and features of congenital heart disease in Xi�an, China as detected using fetal echocardiography..
Authors: Y.J. Wei1, B.M. Liu1, Y.H. Zhou1, X.H. Jia1, S.G. Mu2, X.R. Gao2, M.L. Yang2 and Y. Zhang2
This study aimed to investigate the spectrum and features of congenital heart disease (CHD) in Xi’an, China using fetal echocardiography. All pregnant women referred for fetal echocardiography underwent a systematic fetal echocardiographic examination. Each case of complex defects was diagnosed according to the predominant pathophysiology, and the o.. Read More»
- Genet. Mol. Res. 13(4):
Molecular analysis of patients suspected of Fragile X Syndrome
Authors: A.P. Amancio, C.A. de O. Melo, A. de M. Vieira, L.B. Minasi, D. de M. e Silva, C.C. da Silva and A.D. da Cruz
The aim of this study was to validate the molecular genetic diagnosis of patients suspected of Fragile X Syndrome (FXS) in the Laboratory of Human Cytogenetics and Molecular Genetics (LaGene) of the Department of Health of the State of Goiás, using polymerase chain reaction (PCR). Thirty-five patients referred by public health doctors to LaGene, in.. Read More»
- Genet. Mol. Res. 14(4):
- DOI http://dx.doi.org/2015.November.18.30
- DOI:
- DOI http://dx.doi.org/10.4238/2015.November.18.30
Decreased retinol-binding protein 4 in the sera of patients with end-stage renal disease after kidney transplantation
Authors: W.X. Zhang1, W. Zhou1, Z.M. Zhang1, Z.Q. Zhang1, J.F. He2 and B.Y. Shi3
Retinol-binding protein 4 (RBP4) is a novel adipokine that has been associated with insulin resistance and type 2 diabetes. Patients with end-stage renal disease (ESRD) have very high serum RBP4 levels. However, whether successful kidney transplantation alleviates these elevated serum RBP4 levels is unclear. The serum RBP4 levels of 24 ESRD patients were .. Read More»
- Genet. Mol. Res. 13(4):
Relationship between SPOP mutation and breast cancer in Chinese population
Authors: M.A. Khan, L. Zhu, M. Tania, X.L. Xiao and J.J. Fu
SPOP protein has been found to have ubiquitin ligase activity. Mutations in SPOP gene have been recently reported in some cancers such as prostate, gastric, colorectal cancer. We investigated SPOP DNA mutation in tumor tissues collected from 70 Chinese female breast cancer patients in Southwestern China by DNA sequencing. The .. Read More»
- Genet. Mol. Res. 14(4):
- 2015.October.16.2
- DOI:
- 10.4238/2015.October.16.2
Identifying differential expression genes and single nucleotide variations using RNA-seq in metastatic melanoma
Authors: D. Liu1, Z.G. Zhao1, Z.L. Jiao2 and H.J. Li1
Melanoma is a malignant tumor and one of the most frequent metastatic cancers. This study was conducted to identify differential expression genes (DEGs) and single nucleotide variations (SNVs) in metastatic melanoma. We analyzed microarray data of GSE23056 downloaded from the Gene Expression Omnibus, including two normal samples (skinN1 and skinN2) and 2 .. Read More»
- Genet. Mol. Res. 13(4):
Role of salubrinal in protecting cardiomyocytes from doxorubicin-induced apoptosis
Authors: N. Gong, J.H. Wu, Z.S. Liang, W.H. Jiang and X.W. Wang
We determined whether salubrinal can protect cardiomyocytes from doxorubicin-induced apoptosis and explored the related mechanisms to provide experimental evidence for exploring novel drug candidates to decrease cardiac toxicity. Neonatal rat cardiomyocytes were isolated, cultured in vitro, and pretreated with salubrinal .. Read More»
- Genet. Mol. Res. 14(4):
- 2015.October.16.4
- DOI:
- 10.4238/2015.October.16.4