Gene
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
Single base substitution causing the fragrant phenotype and development of a type-specific marker in aromatic coconut (Cocos nucifera
Authors: A. Vongvanrungruang, C. Mongkolsiriwatana, T. Boonkaew, O. Sawatdichaikul, K. Srikulnath and S. Peyachoknagul
The fragrance gene, betaine aldehyde dehydrogenase 2 (Badh2), has been well studied in many plant species. The objectives of this study were to clone Badh2 and compare the sequences between aromatic and non-aromatic coconuts. The complete coding region was cloned from cDNA of both aromatic and non-aromatic coconuts. The nucleotide sequences were highly ho.. Read More»
- Genet. Mol. Res. 15(3):
- gmr.15038748
- DOI:
- 10.4238/gmr.15038748
Biometric analysis of arabica coffee grown in low potassium nutrient solution under greenhouse conditions
Authors: W.M. Moura, Y.J.B. Soares, A.T. Amaral J�ºnior, G.A. Gravina, L.D. Barili and H.D. Vieira
Genetic parameters and associations between morpho-agronomic traits and nutritional efficiencies of arabica coffee cultivars were estimated to identify promising traits to assist in the selection of coffee genotypes efficient in potassium use, under limiting conditions of this nutrient. The experiment was conducted in a greenhouse with 20 arabica coffee c.. Read More»
- Genet. Mol. Res. 15(3):
- gmr.15038753
- DOI:
- 10.4238/gmr.15038753
Development of the first polymorphic microsatellite markers for the Roman snail Helix pomatia L., 1758 (Helicidae) and cross-species amplification within the genus Helix
Authors: A.M. Krapal, O.P. Popa, E.I. Iorgu, L.B. Cojocaru, A.F. Popa and L.O. Popa
The terrestrial snail Helix pomatia (Gastropoda: Stylommatophora: Helicidae) is one of the largest gastropod species in Europe. This species is strictly protected in some European Union countries; however, at the same time, it is also farmed and commercialized for human consumption. Here, we describe 11 microsatellite markers that are very useful in popul.. Read More»
- Genet. Mol. Res. 15(3):
- gmr.15038817
- DOI:
- 10.4238/gmr.15038817
Distribution of constitutive heterochromatin in Pachycoris torridus (Hemiptera, Scutelleridae) with different chromatic patterns
Authors: T.S. Souza-Firmino, K.C.C. Alevi, L.L.V. Pereira, E.R.S. Souza, F.C.S. J�ºnior,C.A. Banho, G.O. Carmo, M.M. Itoyama
The stink bug Pachycoris torridus is a pest of great agricultural importance due to its records on culture of physic nut (Jatropha curcas), which is the raw material for biodiesel production. An interesting feature of this insect is its high phenotypic variability, a characteristic that resulted in it being classified as a new.. Read More»
- Genet. Mol. Res. 14(4):
- 2015.December.1.26
- DOI:
- 10.4238/2015.December.1.26
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
Effect of the IkB�± mutant gene delivery to mesenchymal stem cells on rat chronic pancreatitis
Authors: T. Qin, C.J. Liu, H.W. Zhang, Y.F. Pan Q. Tang, J.K. Liu,Y.Z. Wang M.X. Hu and F. Xue
This study aimed to investigate the effect of inhibitors of the NF-kΒ alpha mutant gene (IkBaM) delivery to mensenchymal stem cells (MSCs) on rat chronic pancreatitis (CP). A total of 120 Sprague-Dawley rats were randomly divided into 6 groups of 20: Group A was injected with sterile saline solution, Group B was injected .. Read More»
- Genet. Mol. Res. 13(1):
- 2014.January.21.5
- DOI:
- 10.4238/2014.January.21.5
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
Molecular cloning and characterization of a novel chicken gene named grni
Authors: Y. Hua, D.Y. Hui, Z.H. Rong and T. Cheng
The full-length cDNA sequence of a novel expressed sequence tag (GenBank accession No. HQ184338) that was differentially expressed during Newcastle disease virus (NDV) infection in chickens was cloned from the chicken spleen by a rapid amplification of cDNA ends assay. This gene was further analyzed using bioinformatic methods.. Read More»
- Genet. Mol. Res. 13(1):
- 2014.January.21.6
- DOI:
- 10.4238/2014.January.21.6
Regulation of human alpha-globin gene expression and alpha-thalassemia
Authors: D.M. Ribeiro and M.F. Sonati
Hemoglobin and globin genes are important models for studying protein and gene structure, function and regulation. We reviewed the main aspects of regulation of human α-globin synthesis, encoded by two adjacent genes (α2 and α1) clustered on chromosome 16. Their expression is controlled mainly by a regulatory element located 40 kb upstre.. Read More»
- Genet. Mol. Res. 7(4):
- vol7-4gmr472
- DOI:
- 10.4238/vol7-4gmr472