Mutation
Differential expression of the lethal gene Luteus-Pa in cacao of the Parinari series
Authors: B.C. Rehem1, A.-A.F. Almeida1, G.S.F. Figueiredo1, A.S. Gesteira2, S.C. Santos1, R.X. Corr�ªa1, M.M. Yamada3 and R.R. Valle3
The recessive lethal character Luteus-Pa is found in cacao (Theobroma cacao) genotypes of the Parinari series (Pa) and is characterized by expression of leaf chlorosis and seedling death. Several genotypes of the Pa series are bearers of the gene responsible for the expression of the Luteus-Pa character, which can be used as a tool for determining relatio.. Read More»
- Genet. Mol. Res. 15(1):
- gmr.15014925
- DOI:
- 10.4238/gmr.15014925
A novel stop codon mutation in exon 1 (558C>A) of the UGT1A1 gene in a Thai neonate with Crigler-Najjar syndrome type I
Authors: N. Wanlapakorn, P. Nilyanimit, T. Vorawandthanachai, T. Deesudjit, N. Dumrongpisutikul and Y. Poovorawan
Human uridine 5'-diphosphate-glucuronosyltransferases play a critical role in detoxification by conjugating bilirubin with glucoronic acid. Impaired or reduced enzymatic activity causes a spectrum of clinical disorders such as Crigler-Najjar syndrome type I (CN1), Crigler-Najjar syndrome type II, and GilbertâÃ?Â?Ã?Â?s syndrome. CN1 is a severe form .. Read More»
- Genet. Mol. Res. 14(1):
- 2015.January.23.15
- DOI:
- 10.4238/2015.January.23.15
A novel 3-base pair deletion of the CRYAA gene identified in a large Chinese pedigree featuring autosomal dominant congenital perinuclear cataract
Authors: X.D. Kong, N. Liu, H.R. Shi, J.M. Dong, Z.H. Zhao, J. Liu,J. Li-Ling and Y.X. Yang
Congenital cataract is caused by reduced transparency of the lens resulting from metabolic disorders during the fetal period. The disease shows great heterogeneity both clinically and genetically. We identified a 4-generation ethnic Han Chinese family affected by autosomal dominant congenital perinuclear cataract. The patients underwent full clinical and .. Read More»
- Genet. Mol. Res. 14(1):
- 2015.January.23.16
- DOI:
- 10.4238/2015.January.23.16
The G1138A mutation rate in the fibroblast growth factor receptor 3 (FGFR3) gene is increased in cells carrying the t (4; 14) translocation
Authors: P.L. Reddy and R.P. Grewal
Spontaneous mutations are a common phenomenon, occurring in both germ-line and somatic genomes. They may have deleterious consequences including the development of genetic disorders or, when occurring in somatic tissues, may participate in the process of carcinogenesis. Similar to many mutational hotspots, the G1138A mutation .. Read More»
- Genet. Mol. Res. 8(2):
- vol8-2gmr564
- DOI:
- 10.4238/vol8-2gmr564
A novel method for identifying SNP disease association based on maximal information coefficient
Authors: H.M. Liu, N. Rao, D. Yang, L. Yang, Y. Li and F. Ou
To improve single-nucleotide polymorphism (SNP) association studies, we developed a method referred to as maximal information coefficient (MIC)-based SNP searching (MICSNPs) by employing a novel statistical approach known as the MIC to identify SNP disease associations. MIC values varied with minor allele frequencies of SNPs and the odds ratios for diseas.. Read More»
- Genet. Mol. Res. 13(4):
- 2014.December.19.7
- DOI:
- 10.4238/2014.December.19.7
A985G mutation incidence in the medium-chain acyl-CoA dehydrogenase (MCAD) gene in Brazil
Authors: A.C.S. Ferreira, M.P.A. Orlandi, V.C. Oliveira, F.S.V. Malta,F.A. Caxito, K.B. Gomes, E.R. Valadares and A.L.B. Godard
In view of the serious consequences of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency and the absence of information about its incidence in the Brazilian population, we examined the frequency of the A985G mutation in the MCAD gene. A retrospective analysis was made of data on 1722 individuals (844 females) genotyped for.. Read More»
- Genet. Mol. Res. 8(2):
- vol8-2gmr579
- DOI:
- 10.4238/vol8-2gmr579
Screening of mutations in the GCK gene in Jordanian maturity-onset diabetes of the young type 2 (MODY2) patients
Authors: R. Khalil, F. Al-Sheyab, E. Khamaiseh, M.A. Halaweh andH.A. Abder-Rahman
Maturity-onset diabetes of the young type 2 (MODY2) is a genetic form of diabetes mellitus caused by mutations in the glucokinase gene (GCK). We assessed the frequency of GCK gene mutations in Jordanian suspected MODY2 patients. We screened exons 7, 8 and 9, which are specific for pancreatic glucokinase, for mutations at posit.. Read More»
- Genet. Mol. Res. 8(2):
- vol8-2gmr597
- DOI:
- 10.4238/vol8-2gmr597
Phenotypic classification of gastric signet ring cell carcinoma and its relationship with K-ras mutation
Authors: Z.F. Xiong, J. Shi, Z.H. Fu, H.P. Wan and L.X. Tu
We aimed to analyze gastric signet ring cell (SRC) carcinoma subtypes by investigating gastric and intestinal phenotypic marker expression, and explore the relationship between phenotype and K-ras mutation. Immunohistochemistry was performed on 163 SRC carcinoma patient specimens to detect gastric (MUC1, MUC5AC, and MUC6) and .. Read More»
- Genet. Mol. Res. 16(2):
- gmr16029181
- DOI:
- 10.4238/gmr16029181
Overall codon usage pattern of enterovirus 71
Authors: M.R. Ma, L. Hui, M.L. Wang, Y. Tang, Y.W. Chang, Q.H. Jia,X.H. Wang, W. Yan and X.Q. Ha
Hand, foot, and mouth disease (HFMD) is a systemic illness in children and is usually caused by enterovirus 71 (EV71). To provide new insights into the genetic features of EV71 and the relationship between the overall codon usage pattern of this virus and that of humans, values for relative synonymous codon usage (RSCU), effec.. Read More»
- Genet. Mol. Res. 13(1):
- 2014.January.21.1
- DOI:
- 10.4238/2014.January.21.1
Direct sequencing of mutations in the copper-transporting P-type adenosine triphosphate (ATP7B) gene for diagnosis and pathogenesis of Wilson�s disease
Authors: D.F. Zhang and J.F. Teng
Copper-transporting P-type adenosine triphosphatase (ATP7B) has been identified as the pathogenic gene in hepatolenticular degeneration, or Wilson’s disease (WD). The aim of this study was to explore the correlation between genetic mutations and the clinical profile of WD, and to discuss the value of mutation examination in its diagnosis for providi.. Read More»
- Genet. Mol. Res. 15(3):
- gmr.15038746
- DOI:
- 10.4238/gmr.15038746