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Human Genetics   Research Article

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
Human Genetics   Research Article

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
Human Genetics   Research Article

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
Human Genetics   Research Article

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
Human Genetics   Research Article

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
Human Genetics   Research Article

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
Microbial Genetics   Research Article

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
Medical Genetics   Research Article

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
Human Genetics   Research Article

Two novel NPHS1 mutations in a Chinese family with congenital nephrotic syndrome

Authors: L.Q. Wu, J.J. Hu, J.J. Xue and D.S. Liang

Congenital nephrotic syndrome of the Finnish type (CNF) is a lethal, autosomal recessive disorder mainly caused by mutations in the NPHS1 gene; it is found at a relatively high frequency in Finns. We investigated the disease-causing mutations in a Chinese family with CNF and developed a prenatal genetic diagnosis for their lat.. Read More»

Genet. Mol. Res. 10(4):
2011.October.18.1
DOI:
10.4238/2011.October.18.1
Plant Genetics   Research Article

Genetic dissimilarity of putative gamma-ray-induced ‘Preciosa - AAAB-Pome type’ banana (Musa sp) mutants based on multivariate statistical analysis

Authors: R.K.N. Pestana, E.P. Amorim, C.F. Ferreira, V.B.O. Amorim, L.S. Oliveira, C.A.S. Ledo and S.O. Silva

Bananas are among the most important fruit crops worldwide, being cultivated in more than 120 countries, mainly by small-scale producers. However, short-stature high-yielding bananas presenting good agronomic characteristics are hard to find. Consequently, wind continues to damage a great number of plantations each year, leadi.. Read More»

Genet. Mol. Res. 10(4):
2011.October.25.2
DOI:
10.4238/2011.October.25.2