Mutation
Determination of SCN1A genetic variants in Mexican patients with refractory epilepsy and Dravet syndrome
Authors: R.E. Jim�©nez-Arredondo, A.J.L. Brambila-Tapia, F.M. Mercado-Silva, M.T. Maga�±a-Torres and L.E. Figuera
Mutations in the SCN1A gene can result in syndromes associated with epilepsy, including the Dravet syndrome (DS). However, the prevalence of such mutations in these diseases varies widely between different studies, and has not been examined in Mexican patients with epilepsy. Therefore, the objective of this study was to determ.. Read More»
- Genet. Mol. Res. 16(2):
- gmr16029405
- DOI:
- 10.4238/gmr16029405
Ovine prion protein genotype frequencies in northwestern China
Authors: C.-L. Zhao, R. Wu, L. Liu, F.-D. Li, X.-L. Zhang, C. Wang, F. Wang, X.-L. Diao, H.-W. Guan, X. Wang and L. Zhou
Anti-scrapie breeding programs have been initiated to screen for scrapie-resistant sheep based on ovine prion protein gene (PRNP) genotypes at codons 136, 154 and 171 in many countries, especially European Union member states. However, investigation of sheep PRNP genotypes is limited in China, despite the large number of sheep.. Read More»
- Genet. Mol. Res. 11(2):
- dx.doi.org/2012.June.21.2
- DOI:
- dx.doi.org/10.4238/2012.June.21.2
TGF-�²1 polymorphism 509 C>T is associated with an increased risk for hepatocellular carcinoma in HCV-infected patients
Authors: J. Ma, Y.C. Liu, Y. Fang, Y. Cao and Z.L. Liu
Transforming growth factor-beta 1 (TGF-β1), a member of the transforming growth factor beta family, functions as a multi-functional cytokine and plays a key role in cellular growth, proliferation, and differentiation. The 509 C/T polymorphism in the TGF-β1 gene has been implicated in the outcome of hepatitis C virus (HCV) infection; however, lit.. Read More»
- Genet. Mol. Res. 14(2):
- 2015.May.4.3
- DOI:
- 10.4238/2015.May.4.3
Evaluation of genetic variability in micropropagated propagules of ornamental pineapple [Ananas comosus var. bracteatus (Lindley) Coppens and Leal] using RAPD markers
Authors: M.D.M. Santos1, G.C.S. Buso2 and A.C. Torres3
The objective of the present study was to evaluate the genetic variability in micropropagated plantlets of ornamental pineapple, after the fourth period of subculture. The basal culture medium consisted of MS salts, vitamins, 3% sucrose, liquid formulation, supplemented with 6-benzylaminopurine (BAP) at concentrations of 0.125, 0.25, 0.5, 1.0, and 2.0 mg/.. Read More»
- Genet. Mol. Res. 7(4):
- vol7-4gmr489
- DOI:
- 10.4238/vol7-4gmr489
Rapid molecular diagnosis of the Gilbert�s syndrome-associated exon 1 mutation within the UGT1A1 gene
Authors: T.-Y. Hsieh, T.-Y. Shiu, N.-F. Chu, T.-Y. Chao, H.-C. Chu,W.-K. Chang, Y.-C. Chao and H.-H. Huang
Gilbert’s syndrome is suspected in patients with unconjugated hyperbilirubinemia caused by decreased activity of the UDP-glucuronosyltransferase 1A1 (UGT1A1) gene in the absence of abnormal liver function and hemolysis. The major genetic variants underlying Gilbert’s syndrome are TATA-box repeats of the promoter re.. Read More»
- Genet. Mol. Res. 13(1):
- 2014.January.28.12
- DOI:
- 10.4238/2014.January.28.12
Identification of copy number variation in the gene for autosomal dominant optic atrophy, OPA1, in a Chinese pedigree
Authors: X. Jin, Y.H. Chen, Z. Liu, Y. Deng, N.N. Li, H. Huang, M. Qi, X. Yi and J. Zhu
Autosomal dominant optic atrophy (ADOA) is an optic neuropathy characterized by bilateral optic nerve pallor and decreased visual acuity. It has been reported to be associated with two genes, OPA1, OPA3, and the OPA4, OPA5, and OPA8 loci. However, mutationsin OPA1 constitute the most prevalent cause of ADOA. The purpose of this study was to identify the u.. Read More»
- Genet. Mol. Res. 14(3):
- http://dx.doi.org/2015.September.21.8
- DOI:
- http://dx.doi.org/10.4238/2015.September.21.8
Mutations in WT1 in boys with sporadic isolated steroid-resistant nephrotic syndrome
Authors: Y. Yang1,2,3*, F. Zhao1,2,3*, X. Tu4 and Z. Yu1,2,3
Mutations in the Wilms’ tumor gene, WT1, can lead to syndromic steroid-resistant nephrotic syndrome and isolated steroid-resistant nephrotic syndrome. WT1 mutations have been identified in the majority of children with Denys-Drash or Frasier syndrome. WT1 mutations have not previously been identified in boys with sporadic isolated steroid-resistant .. Read More»
- Genet. Mol. Res. 15(1):
- gmr.15017559
- DOI:
- 10.4238/gmr.15017559
Mutation analysis of gene PAX6 in human gliomas
Authors: Pinto GR,Clara CA, Santos MJ, Almeida JRW, Burbano RR, Rey JA and Casartelli C
Gliomas are the most common tumors of the central nervous system. In spite of the marked advances in the characterization of the molecular pathogenesis of gliomas, these tumors remain incurable and, in most of the cases, resistant to treatments, due to their molecular heterogeneity. Gene PAX6, which encodes a transcription fac.. Read More»
- Genet. Mol. Res. 6(4):
DNA sequence polymorphism within the bovine adenosine monophosphate deaminase 1 (AMPD1) is associated with production traits in Chinese cattle
Authors: C.-B. Wei, J.-Q. Wang, F.-Y. Chen, H. Niu and K. Li1,
The objectives of the present study were to detect an 18-bp deletion mutation in the bovine adenosine monophosphate deaminase 1 (AMPD1) gene and analyze its effect on growth traits in 2 Chinese cattle breeds using DNA sequencing and agarose electrophoresis. The five 19-bp polymerase chain reaction products of the AMPD1 gene exhibited 3 genotypes and 2 all.. Read More»
- Genet. Mol. Res. 14(1):
- 2015.February.6.6
- DOI:
- 10.4238/2015.February.6.6
Specific BRCA1 gene variations amongst young Moroccan breast cancer patients
Authors: A. Tazzite, S. Nadiffi, D. Kottwitz, M. El Amrani, H. Jouhadi,A. Benider, A. Moumen4 and H. Sefrioui
Germline mutations in the BRCA1 gene are known predictive markers for the development of hereditary breast cancer. Nevertheless, no comprehensive study has been performed targeting the presence and relevance of BRCA1 mutations in Moroccan breast cancer patients. We here present an analysis of BRCA1 gene regions (exon 2 and exo.. Read More»
- Genet. Mol. Res. 13(1):
- http://dx.doi.org/2014.January.31.5
- DOI:
- http://dx.doi.org/10.4238/2014.January.31.5