Mutation
Search for methylation-sensitive amplification polymorphisms in mutant figs
Authors: M.G.F. Rodrigues, A.B.G. Martins, B.W. Bertoni, A. Figueira and S. Giuliatti
Fig (Ficus carica) breeding programs that use conventional approaches to develop new cultivars are rare, owing to limited genetic variability and the difficulty in obtaining plants via gamete fusion. Cytosine methylation in plants leads to gene repression, thereby affecting transcription without changing the DNA sequence. Previous studies using random amp.. Read More»
- Genet. Mol. Res. 12(3):
- 2013.July.8.8
- DOI:
- 10.4238/2013.July.8.8
Mutations in the ADAR1 gene in Chinese families with dyschromatosis symmetrica hereditaria
Authors: G.L. Zhang, H.J. Shi, M.H. Shao, M. Li, H.J. Mu, Y. Gu, X.F. Du and P. Xie
We investigated 2 Chinese families with dyschromatosis symmetrica hereditaria (DSH) and search for mutations in the adenosine deaminase acting on RNA1 (ADAR1) gene in these 2 pedigrees. We performed a mutation analysis of the ADAR1 gene in 2 Chinese families with DSH and reviewed all articles published regarding ADAR1 mutations reported since 2003 by usin.. Read More»
- Genet. Mol. Res. 12(3):
- 2013.January.4.18
- DOI:
- 10.4238/2013.January.4.18
Specific and straightforward molecular investigation of �²-thalassemia mutations in the Malaysian Malays and Chinese using direct TaqMan genotyping assays
Authors: S.L. Kho, K.H. Chua, E. George and J.A.M.A. Tan
Beta-thalassemia is a life-threatening inherited blood disorder. Rapid characterization of β-globin gene mutations is necessary because of the high frequency of Malaysian β-thalassemia carriers. A combination real-time polymerase chain reaction genotyping assay using TaqMan probes was developed to confirm β-globin gene mutations. In this st.. Read More»
- Genet. Mol. Res. 12(3):
- 2013.February.28.4
- DOI:
- 10.4238/2013.February.28.4
Hereditary hemochromatosis in a Brazilian university hospital in S�£o Paulo State (1990-2000)
Authors: Ana L.C. Martinelli, Rui Filho, Samantha Cruz, Rendrik Franco,Marli Tavella, Marie Secaf, Leandra Ramalho, Sergio Zucoloto, Sandra Rodrigues and Marcos Zago
Hereditary hemochromatosis (HH) is the most common genetic disease among individuals of European descent. Two mutations (845G→A, C282Y and 187C→G, H63D) in the hemochromatosis gene (HFE gene) are associated with HH. About 85-90% of patients of northern European descent with HH are C282Y homozygous. The prevalence of .. Read More»
- Genet. Mol. Res. 4(1):
PCR-RFLP genotyping protocol for chicken Mx gene G/A polymorphism associated with the S631N mutation
Authors: L. Sironi, P. Ramelli, J.L. Williams and P. Mariani
The Mx (myxovirus resistance) gene codes for a protein with antiviral activity. Non-synonymous G/A polymorphism at position 2032 of chicken Mx cDNA results in a change at amino acid 631 of the Mx protein. This mutation has been shown to affect the antiviral activity of the Mx molecule, although recent studies have not confirme.. Read More»
- Genet. Mol. Res. 9(2):
- vol9-2gmr811
- DOI:
- 10.4238/vol9-2gmr811
A novel insertion mutation in the ADAR1 gene of a Chinese family with dyschromatosis symmetrica hereditaria
Authors: C.Y. Zhu, K.J. Zhu, Y. Zhou and Y.M. Fan
Dyschromatosis symmetrica hereditaria (DSH) is an autosomal dominant pigmentary genodermatosis, characterized by a mixture of hyperpigmented and hypopigmented macules that are mainly present on the dorsal portions of the extremities. The DSH locus was mapped to chromosome 1q11-q12 and, subsequently, pathogenic mutations in the double-stranded RNA-specific.. Read More»
- Genet. Mol. Res. 12(3):
- 2013.August.12.1
- DOI:
- 10.4238/2013.August.12.1
Comparison of EGFR mutation rates in lung adenocarcinoma tissue and pleural effusion samples
Authors: Y. Guan, Z.J. Wang, L.Q. Wang, D.F. Hua and J. Liu
The goal of the current study was to investigate the differences in epidermal growth factor receptor (EGFR) mutation rates in tumor tissue and pleural effusion specimens from patients with lung adenocarcinoma. PCR amplification and gene sequencing were used to detect EGFR mutations in exons 18, 19, 20, and 21 in tumor tissue a.. Read More»
- Genet. Mol. Res. 15(2):
- gmr.15027001
- DOI:
- 10.4238/gmr.15027001
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
DNA repair mutant pso2 of Saccharomyces cerevisiae is sensitive to intracellular acetaldehyde accumulated by disulfiram-mediated inhibition of acetaldehyde dehydrogenase
Authors: M. Brendel, G. Marisco, I. Ganda, R. Wolter and C. Pungartnik
Blocking aldehyde dehydrogenase with the drug disulfiram leads to an accumulation of intracellular acetaldehyde, which negatively affects the viability of the yeast Saccharomyces cerevisiae. Mutants of the yeast gene PSO2, which encodes a protein specific for repair of DNA interstrand cross-links, showed higher sensitivity to .. Read More»
- Genet. Mol. Res. 9(1):
- vol9-1gmr695
- DOI:
- 10.4238/vol9-1gmr695
A novel RUNX2 mutation (T420I) in Chinese patients with cleidocranial dysplasia
Authors: G.X. Wang, R.P. Sun and F.L. Song
Cleidocranial dysplasia (CCD) is an autosomal-dominant heritable skeletal disease caused by heterozygous mutations in the RUNX2 gene. We studied a Chinese family that included three affected individuals with CCD phenotypes; the clinical features of patients with CCD include delayed closure of fontanelles, frontal bossing, dysp.. Read More»
- Genet. Mol. Res. 9(1):
- vol9-1gmr685
- DOI:
- 10.4238/vol9-1gmr685