Mutation
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
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
Distribution of HLA-B27 and CYP2D6*4 mutations in the middle Black Sea area (Tokat) of Turkey
Authors: S. Sahin, L. Aydogan, I. Benli and H. Ozyurt
We analyzed distribution of HLA-B27 and CYP2D6*4 mutations in 249 patients from Tokat province in Turkey with symptoms of arthritis, sacroiliac, joint and back pain, using a LightCycler 480 II Real-Time PCR thermal cycler. The Genes-4U was applied for studying HLA-B27 mutation, and the Tib-Molbiol commercial kit was used to ex.. Read More»
- Genet. Mol. Res. 10(4):
- 2011.December.2.3
- DOI:
- 10.4238/2011.December.2.3
Development of a transposon-based marker system for mutation breeding in sorghum (Sorghum bicolor L.)
Authors: S.B. Im, S.-J. Kwon, J. Ryu, S.W. Jeong, J.B. Kim, J.-W. Ahn, S.H. Kim, Y.D. Jo, H.-I. Choi and S.-Y. Kang
Under certain circumstances, transposable elements (TE) can create or reverse mutations and alter the genome size of a cell. Sorghum (Sorghum bicolor L.) is promising for plant transposon tagging due to its small genome size and its low content of repetitive DNA. We developed a marker system based on targeted region amplification polymorphisms (TE-TRAP) t.. Read More»
- Genet. Mol. Res. 15(3):
- gmr.15038713
- DOI:
- 10.4238/gmr.15038713
Novel mutations in the FUCA1 gene that cause fucosidosis
Authors: W. Panmontha1, P. Amarinthnukrowh, P. Damrongphol, T. Desudchit, K. Suphapeetiporn and V. Shotelersuk
Fucosidosis is a rare lysosomal storage disorder inherited in an autosomal recessive manner. Its estimated frequency is below 1 in 200,000 live births. Its clinical phenotypes include progressive neurological and mental deterioration, coarse facial features, growth retardation, visceromegaly, angiokeratomas, and seizures. The disease is caused by mutation.. Read More»
- Genet. Mol. Res. 15(3):
- gmr.15038733
- DOI:
- 10.4238/gmr.15038733
Identification of a novel SLC45A2 mutation in albinism by targeted next-generation sequencing
Authors: J.J. Xue, J.F. Xue, H.Q. Xue, Y.Y. Guo, Y. Liu and N. Ouyang
Albinism is a diverse group of hypopigmentary disorders caused by multiple-genetic defects. The genetic diagnosis of patients affected with albinism by Sanger sequencing is often complex, expensive, and time-consuming. In this study, we performed targeted next-generation sequencing to screen for 16 genes in a patient with albinism, and identified 21 genet.. Read More»
- Genet. Mol. Res. 15(3):
- gmr.15038743
- DOI:
- 10.4238/gmr.15038743
Identification of a novel mutation of the EDA gene in X-linked hypohidrotic ectodermal dysplasia
Authors: J.J. Xue, B. Tan, Q.P. Gao,G.S. Zhu,D.S. Liang,L.Q. Wu
This study aimed to identify the disease-causing mutation in the ectodysplasin A (EDA) gene in a Chinese family affected by X-linked hypohidrotic ectodermal dysplasia (XLHED). A family clinically diagnosed with XLHED was investigated. For mutation analysis, the coding region of EDA of 2 patients and 7 unaffected members of the.. Read More»
- Genet. Mol. Res. 14(4):
- 2015.December.1.29
- DOI:
- 10.4238/2015.December.1.29
Increased ROS generation and SOD activity in heteroplasmic tissues of transmitochondrial mice with A3243G mitochondrial DNA mutation
Authors: J. Li1, K. Zhou2, X. Meng1, Q. Wu1, S. Li1, Y. Liu2 and J. Wang1
The mitochondrial A3243G tRNALeu(UUR) mutation associated with a variety of mitochondrial disorders results in a severe respiratory deficiency, an increase in reactive oxygen species (ROS) production and activities of anti-oxidative enzyme in vitro. However, the phenotypic implications of this mutation have not been described in vivo. Here, mitochondria c.. Read More»
- Genet. Mol. Res. 7(4):
- vol7-4gmr480
- DOI:
- 10.4238/vol7-4gmr480
Mutational characterization of the P3H1/CRTAP/CypB complex in recessive osteogenesis imperfecta
Authors: C. Barbirato, M. Trancozo, M.G. Almeida, L.S. Almeida, T.O. Santos, J.C.G. Duarte,M.R.G.O. Rebou�§as, V. Sipolatti, V.R.R. Nunes, F. Paula
Osteogenesis imperfecta (OI) is a genetic disease characterized by bone deformities and fractures. Most cases are caused by autosomal dominant mutations in the type I collagen genes COL1A1 and COL1A2; however, an increasing number of recessive mutations in other genes have been reported. The LEPRE1, CRTAP, and PPIB genes encod.. Read More»
- Genet. Mol. Res. 14(4):
- 2015.December.1.36
- DOI:
- 10.4238/2015.December.1.36
Low prevalence of glucokinase gene mutations in gestational diabetic patients with good glycemic control
Authors: H.R. Frigeri, I.C.R. Santos, R.R. R�©a, A.C.R. Almeida, C.M.T. Fadel-Picheth, F.O. Pedrosa, E.M. Souza, F.G.M. Rego and G. Picheth
Glucokinase (GCK) plays a key role in glucose homeostasis. Gestational diabetes mellitus increases the risk of gestational complications in pregnant women and fetuses. We screened for mutations in coding and flanking regions of the GCK gene in pregnant women with or without gestational diabetes in a Brazilian population. A sam.. Read More»
- Genet. Mol. Res. 11(2):
- 2012.May.18.2
- DOI:
- 10.4238/2012.May.18.2