Research Article

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2016 Dec 19
Adult; Arginine; Asians; Case-control studies; Collagen Type IX; Female; Genetic predisposition to disease; Glutamine; Humans; Intervertebral disc degeneration; Intervertebral Disc Displacement; male; Middle Aged; Mutation

Intervertebral disc disease is a multifactorial condition, yet disease pathogenesis that can be promoted by a single dominant mutation affecting the expression of susceptibility genes. We performed a case-control study to assess the influence of the COL9A2 Gln326Arg polymorphism on risk of intervertebral disc disease in a Chinese population. Between March 2014 and March 2015, a total of 215 ... more

T. Meng; Q. Ren; J.M. Wang; H. Shi; S.T. Zhang; M.T. Liu
2016 Dec 19
Brazil; Cystic fibrosis; Cystic Fibrosis Transmembrane Conductance Regulator; Early Diagnosis; Gene flow; Gene frequency; Genetic counseling; Healthy Volunteers; Humans; Mutation; Whites

The ΔF508 mutation is the most common cause of cystic fibrosis and its prevalence varies worldwide. For instance, up to 20-fold variations in its frequency have been recorded across different areas of Brazil. This study aimed to compare the distribution of ΔF508 among healthy individuals of admixed Portuguese descent from Espírito Santo (ES), a state in Southeastern Brazil, to that in a ... more

A.M. Lanes; L.S. Louro; D.P. Ventorim; E. Stur; F.M. Garcia; L.P. Agostini; L.N.R. Alves; R.S. Reis; I.D. Louro; R.S. Dettogni
Comparative genomic hybridization; DNA Copy Number Variations; Gamma rays; Gene expression; Genetic association studies; Mutation; Oryza; Phenotype

Comparative genomic hybridization (CGH) is a powerful tool used to analyze changes in copy number, polymorphisms, and structural variations in the genome. Gene copy number variation (CNV) is a common form of natural diversity in the genome, which can create new genes and alter gene structure. Thus, CNVs may influence phenotypic variation and gene expression. In this study, to detect CNVs, we ... more

J.E. Hwang; S.H. Kim; I.J. Jung; S.M. Han; J.W. Ahn; S.J. Kwon; S.H. Kim; S.Y. Kang; D.S. Kim; J.B. Kim
Fruit; Gene expression profiling; Gene Expression Regulation, Plant; Mutation; Prunus persica; Transcriptome

Fruit ripening is a complex developmental process, the details of which remain largely unknown in fleshy fruits. In this paper, the fruit flesh of two peach varieties, "Zhongyou9" (a nectarine; Prunus persica L. Batsch) and its mutant "Hongyu", was analyzed by RNA-seq technology during two stages of ripening at 20-day intervals. One hundred and eighty significant upregulated and two hundred ... more

H.F. Pan; Y. Sheng; Z.H. Gao; H.L. Chen; Y.J. Qi; X.K. Yi; G.H. Qin; J.Y. Zhang
Adult; Aged; Aged, 80 and over; Arabs; Colorectal neoplasms; Exons; Female; Humans; male; Middle Aged; Mutation; Mutation Rate; Prognosis; Proto-Oncogene Proteins p21(ras); Retrospective Studies; Saudi Arabia; Survival analysis; Young Adult

Mutations in codons 12/13 of K-ras exon 2 are associated with reduced benefit from anti-epidermal growth factor receptor antibody treatment for metastatic colorectal cancer (CRC). Here, we evaluated the frequency of K-ras mutations and their relationship with clinicopathological features and treatment outcomes in Saudi Arabian patients with CRC. The genetic status of K-ras was determined in ... more

J. Zekri; A. Al-Shehri; M. Mahrous; S. Al-Rehaily; T. Darwish; S. Bassi; E. Taani; A. Zahrani; S. Elsamany; J. Al-Maghrabi; B.B. Sadiq
cluster analysis; Fruit; Genetic variation; Genotype; Hybridization, Genetic; Microsatellite instability; Microsatellite Repeats; Musa; Mutation; Plant breeding; Reproducibility of Results; Species Specificity

Banana (Musa spp) is a fruit species frequently cultivated and consumed worldwide. Molecular markers are important for estimating genetic diversity in germplasm and between genotypes in breeding programs. The objective of this study was to analyze the genetic diversity of 21 banana genotypes (FHIA 23, PA42-44, Maçã, Pacovan Ken, Bucaneiro, YB42-47, Grand Naine, Tropical, FHIA 18, PA94-01, YB42 ... more

A.V.C. Silva; A.L.S. Nascimento; M.F. Vitória; A.R.C. Rabbani; A.N.R. Soares; A.S. Lédo
Capsicum; Cytoplasm; Fertility; Flowers; Genes, Plant; Genetic markers; Genotype; Hybridization, Genetic; Meristem; Mutation; Phenotype; Plant breeding; Plant Infertility; Reproducibility of Results; seeds

Cytoplasmic male sterility (CMS) in pepper is a better way to produce hybrid seeds compared to manual production. We used the two sequence characterized amplified region (SCAR) markers (CRF-SCAR and CMS-SCAR) in CMS pepper, to identify the genotype. We assembled two CMS yellow bud mutants (YBM; YBM12-A and YBM12-B). This mutation in leaf color is controlled by a single dominant nuclear gene. ... more

G.S. Sun; Z.L. Dai; P.W. Bosland; Q. Wang; C.Q. Sun; Z.C. Zhang; Z.H. Ma
Avena; Chromosomes, Plant; Flowers; Homeodomain Proteins; Mutation; Nuclear Proteins; Phenotype; Plant Proteins

Multiflorous spikelets are found in several grass species of agricultural and economic interest. In oat, this morphological characteristic is associated with the production of naked grains. Although many genetic studies have been performed over the past century, the inheritance of the multiflorous spikelet trait is not fully understood in oat. The objectives of this study were to evaluate ... more

C.M. Zimmer; I.P. Ubert; K. Pellizzaro; L.C. Federizzi; I.C. Nava
Alleles; Brazil; Gene frequency; Genetic association studies; Haplotypes; Humans; Huntingtin Protein; Huntington Disease; Mutation; Trinucleotide repeat expansion

Huntington's disease (HD) is an autosomal dominant progressive neurodegenerative disorder caused by a dynamic mutation due to the expansion of CAG repeats in the HTT gene (4p16.3). The considered normal alleles have less than 27 CAG repeats. Intermediate alleles (IAs) show 27 to 35 CAG repeats and expanded alleles have more than 35 repeats. The IAs apparently have shown a normal phenotype. ... more

T.A. Apolinário; C.L.A. Paiva; L.A. Agostinho
Ascomycota; Brazil; Ecosystem; Evolution, Molecular; Fungal Proteins; Mutation; Peptide Elongation Factor 1; Phylogeography; Polymorphism, Genetic; Selection, Genetic

Lasiodiplodia theobromae is a plant pathogen with a worldwide distribution, with low host specificity, causing stem cankers, dieback diseases, and fruit rot in several species of plants. In coconut, this pathogen is reported as the etiological agent of "coconut leaf blight" (CLB) disease, causing several losses in fruit production. The CLB is an important disease for this crop in Brazil. In ... more

P.H.D. Santos; B.M. Carvalho; K.P. Aguiar; F.A.S. Aredes; T.P.S. Poltronieri; J.M.S. Vivas; M. Dias; G.A. Bezerra; D.B. Pinho; M.G. Pereira; S.F. Silveira