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Plant Genetics   Research Article

Detection of a mutation at codon 43 of the rpsL gene in Xanthomonas oryzae pv. oryzicola and X. oryzae pv. oryzae by PCR-RFLP

Authors: Y. Zhang, X. Yang, F.Y. Zhou, A.F. Zhang, X.F. Zhu, Y. Chen, M.G. Zhou and T.C. Gao

The aim of this study was to develop a method to detect a point mutation in the ribosomal S12 protein (rpsL) gene in streptomycin-resistant strains of Xanthomonas oryzae pv. oryzicola and X. oryzae pv. oryzae. The polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method was developed to detect a point mutation in codon 43 of th.. Read More»

Genet. Mol. Res. 14(4):
2015.December.28.6
DOI:
10.4238/2015.December.28.6
Human Genetics   Research Article

Respiratory chain complex III deficiency in patients with tRNA-leu mutation

Authors: J. Jiang, X.L. Wang and Y.Y. Ma

The aim of this study was to investigate the clinical and genetic profiles of mitochondrial disease resulting from deficiencies in the respiratory chain complex III. Three patients, aged between 8 months and 12 years, were recruited for this study. The activities of mitochondrial respiratory chain complexes in the peripheral leucocytes were spectrophotome.. Read More»

Genet. Mol. Res. 14(4):
2015.December.28.12
DOI:
10.4238/2015.December.28.12
Human Genetics   Research Article

HPRTYale proposed as a pathogenic variant for Lesch-Nyhan syndrome: a case report

Authors: E. Stur, R.S. Reis, L.P. Agostini, A.M.A. Silva-Conforti and I.D. Louro

Table of Contents | Genet. Mol. Res. 2016 (2) Research Article Effect of uric acid on mitochondrial function and oxidative stress in hepatocytes Authors: Y. Yang Y. Zhou S. Cheng J.L. Sun H. Yao L. Ma Here, we investigated the effect of uric acid (UA) on hepatocyte mitochondria. Hepatocytes cultured i.. Read More»

Genet. Mol. Res. 15(2):
gmr.15028251
DOI:
10.4238/gmr.15028251
Human Genetics   Research Article

Analysis and application of ATP7B gene mutations in 35 patients with hepatolenticular degeneration

Authors: Y.N. Zong and X.D. Kong

We investigated the genetic mutations involved in Wilson’s disease to improve prenatal genetic diagnosis and presymptomatic diagnosis. The polymerase chain reaction (PCR) was used to amplify the exons and exon-intron boundaries of the ATP7B gene in 35 Wilson’s disease pedigrees. The PCR products were further analyzed by Sanger sequencing. Pren.. Read More»

Genet. Mol. Res. 14(4):
2015.December.28.25
DOI:
10.4238/2015.December.28.25
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

Deciphering the spectrum of somatic mutations in the entire mitochondrial DNA genome

Authors: X.Z. Chen, Y. Fang, Y.H. Shi, J.H. Cui, L.Y. Li, Y.C. Xu and B. Ling

The mitochondrion is a crucial intracellular organelle responsible for regulating cellular energy metabolism, producing free radicals, initiating and executing the apoptotic pathways. Previous studies have shown that somatic mutations in mitochondrial DNA are associated with various tumors, which may be involved during carcinogenesis and tumor progression.. Read More»

Genet. Mol. Res. 14(2):
http://dx.doi.org/2015.April.30.5
DOI:
http://dx.doi.org/10.4238/2015.April.30.5
Microbial Genetics   Research Article

Salmonella enterica Typhimurium fljBA operon stability: implications regarding the origin of Salmonella enterica I 4,[5],12:i:-

Authors: M.P.O. Tomiyama, C.H. Werle, G.P. Milanez, D.B. Nóbrega, J.P. Pereira, A.P. Calarga, F. Flores and M. Brocchi

Salmonella enterica subsp enterica serovar 4,5,12:i:- has been responsible for many recent Salmonella outbreaks worldwide. Several studies indicate that this serovar originated from S. enterica subsp enterica serovar Typhimurium, by the loss of the flagellar phase II gene (fljB) and adjacent sequences. However, at least two different clones of S. enterica.. Read More»

Genet. Mol. Res. 14(4):
2015.December.29.13
DOI:
10.4238/2015.December.29.13
Human Genetics   Research Article

Two novel ATP2C1 mutations in patients with Hailey-Hailey disease and a literature review of sequence variants reported in the Chinese population

Authors: L. Meng, Y. Gu, X.F. Du, M.H. Shao, L.L. Zhang, G.L. Zhang and X.L. Wang

Hailey-Hailey disease (HHD) is an autosomal dominant disorder in which the ATP2C1 gene has been implicated. Many mutations of this gene have been detected in HHD patients. To analyze such mutations in HHD and summarize all those identified in Chinese patients with this disease, we examined four familial and two sporadic cases and searched for case reports.. Read More»

Genet. Mol. Res. 14(4):
2015.December.29.45
DOI:
10.4238/2015.December.29.45
Plant Genetics   Research Article

Analysis of specific sequences in mutant rice generated by introduction of exogenous corn DNA

Authors: W.C. Li, S.D. Ji, C.Z. Tian, Z.K. Li, X.C. Wang, H.C. Zhang, Y.L. Sun, X.Z. Shi, T.X. Wang and J.Y. Li

Rice variation induced by the introduction of exogenous DNA has become an important method of improving rice varieties and creating new germplasms. In this study, we transferred maize genomic DNA fragments to the receptor of Nipponbare rice using a modified “pollen-tube pathway” method. Material from mutant rice B1 and B2 were acquired and 14 .. Read More»

Genet. Mol. Res. 14(4):
2015.December.29.5
DOI:
10.4238/2015.December.29.5
Human Genetics   Research Article

Less ΔmtDNA4977 than normal in various types of tumors suggests that cancer cells are essentially free of this mutation

Authors: Maria Angela C. Dani, Sergio U. Dani, Silmara P.G. Lima, Alfredo Martinez, Benedito M. Rossi, Fernando Soares, Marco A. Zago and Andrew J.G. Simpson

Levels of mtDNA4977 deletions (DmtDNA4977) have been found to be lower in tumors than in adjacent non-tumoral tissues. In 87 cancer patients, DmtDNA4977 was detected by multiplex polymerase chain reaction (PCR) amplification in 43 (49%) of the tumors and in 74 (85%) of the samples of non-tumoral tissues that were adjacent to t.. Read More»

Genet. Mol. Res. 3(3):