Mini-Review

Related GMR Articles

09/04/2013
Chromosome 7; Clinical diagnosis; Elastin (ELN) gene; Fluorescence in situ hybridization; Williams-Beuren syndrome

Williams-Beuren syndrome (WBS) is a genetic disorder characterized by physical and intellectual developmental delay, associated with congenital heart disease and facial dysmorphism. WBS is caused by a microdeletion on chromosome 7 (7q11.23), which encompasses the elastin (ELN) gene and about 27 other genes. The gold standard for WBS laboratory diagnosis is FISH (fluorescence ... more

D.E.S. Leme; D.H. Souza; G. Mercado; E. Pastene; A. Dias; D. Moretti-Ferreira
03/11/2013
Aegilops biuncialis; C-banding; chromosome; Fluorescence in situ hybridization; Karyotype

Aegilops biuncialis can be hybridized with wheat (Triticum spp) and has been used for wheat breeding and genetic studies. The A. biuncialis karyotype (Ub Ub Mb Mb) was investigated based on three A. biuncialis accessions grown in China. Two pairs of SAT chromosomes were identified as 1Ub and 5Ub ... more

J. Wang; W. Zhang; H. Zhao; F.R. Li; Z.G. Wang; J. Ji; X.Q. Zhang; D.W. Wang; J.M. Li
12/18/2014
Cynoglossus semilaevis; Fluorescence in situ hybridization; Major rDNA; Minor rDNA; Pleuronectiformes; Sex chromosome

Half-smooth tongue sole (Cynoglossus semilaevis) is an important aquaculture flatfish in China. Cytogenetic analysis has revealed that its sex determination system is female heterogametic (ZZ/ZW). The W chromosome is morphologically larger and has been considered evolutionarily younger than any other chromosome in the set. However, the genetic origin and evolution process of this ... more

L. Jiang; J. Jiang; J. Liu; J. Yuan; Y. Chen; Q. Zhang; X. Wang
12/04/2014
Cross-amplification; Fluorescence in situ hybridization; Forage; Microsatellite

Aeschynomene falcata is an important forage species; however, because of low seed production, it is underutilized as forage species. Aeschynomene is a polyphyletic genus with a challenging taxonomic position. Two subgenera have been proposed, and it is suggested that Aeschynomene can be split in 2 genera. Thus, new markers, such as microsatellite sequences, are ... more

C.A. Polido; C.C. Mantello; A.P. Moraes; A.P. Souza; E.R. Forni-Martins
03/26/2014
18S rDNA gene; 28S rDNA gene; Bradysia hygida; Fluorescence in situ hybridization; Sciarid

In insects, ribosomal genes are usually detected in sex chromosomes, but have also or only been detected in autosomal chromosomes in some cases. Previous results from our research group indicated that in Bradysia hygida, nucleolus organizer regions were associated with heterochromatic regions of the autosomal C chromosome, using the silver impregnation technique. The present ... more

V.P. Gaspar; E.L.T. Shimauti; M.A. Fernandez
05/12/2015
Fluorescence in situ hybridization; Infertility; Reciprocal translocation; Sperm aneuploidy rates

A reciprocal translocation between the short arm of chromosome 1 and the long arm of chromosome 3 was observed in a pedigree of three carriers (proband, and his brother and mother). In this study, the three carriers had different clinical manifestations: the proband with infertility, his brother with spousal miscarriages, and his mother with no adverse reproductive history. Cytogenetic ... more

L.L. Li; Y. Dong; R.X. Wang; N. An; X. Yun; R.Z. Liu
03/06/2015
13q deletion; Chromosomal microarray analysis; Complex phenotype; Fluorescence in situ hybridization; Karyotype; Ring chromosome 13

We describe the first postnatal diagnosis of a child from Central Brazil with de novo cytogenetic alterations in 13q showing malformations of the brain, eyes, distal limbs, and genitourinary tract, and severe intellectual disability. The karyotype was a constitutive 46,XX,r(13)[77]/45,XX,-13[17]/46,XX,idic r(13)[6]. Interphase and metaphase fluorescence in situ ... more

L.B. Minasi; I.P. Pinto; J.G. de Almeida; A.V. de Melo; D.M.C. Cunha; C.L. Ribeiro; G.P. Silva; M.G. Brasil; D.M. Silva; C.C. da Silva; A.D. da Cruz
10/04/2007
Bioinformatics tool; Comparative genomic hybridization; DNA microarray; Gene expression; Genomic shotgun libraries; Optimal clones

In DNA microarray experiments, the gene fragments that are spotted on the slides are usually obtained by the synthesis of specific oligonucleotides that are able to amplify genes through PCR. Shotgun library sequences are an alternative to synthesis of primers for the study of each gene in the genome. The possibility of putting thousands of gene sequences into a single slide allows the ... more

M.E. Cantão; J.E. Ferreira; E.G.M. Lemos
12/23/2016
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

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