Cytogenetics - Past, Present and Further Perspectives最新文献

{"title":"Resolving Paradoxes of Robertsonian Translocations","authors":"N. Kovaleva","doi":"10.5772/INTECHOPEN.79237","DOIUrl":"https://doi.org/10.5772/INTECHOPEN.79237","url":null,"abstract":"Since Robertsonian translocations (ROB) are essential in the etiology of congenital malformations and reproductive disorders, it is natural to assume that they represent a thoroughly studied subject. However, on closer inspection, there are poorly studied areas within this field. The aim of this report is to present results of a comprehensive analysis of available data collected by researchers worldwide that allows a new look at the problems mentioned above. There were determined rates and spectrums of ROB in the general population and in patients with reproductive disorders. The comprehension of a female-based sex ratio (male-to-female ratio) among newborn carriers of balanced nonhomologous ROB in the general population leads to a conclusion on the mechanism of sex-specific correction of translocation trisomy, which might explain both inexplicably low occurrence of rob-associated uniparental disomy and phenomenon of “non-Mendelian-inheritance.” The data obtained indicate that female ROB carriers are at a much higher risk of uniparental disomy compared to male ROB carriers. In the majority of asymptomatic male carriers of homologous translocation/isochromosome (HT), spermatogenesis is not impaired. An analysis of sex ratio among ill-defined HT carriers showed a difference between patients with Prader-Willi syndrome and Angelman syndrome, indicating different mechanisms of HT formation.","PeriodicalId":356734,"journal":{"name":"Cytogenetics - Past, Present and Further Perspectives","volume":"10 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2019-03-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"134433389","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Cytogenetic Tools to Study the Biodiversity of Neotropical Fish: From the Classic to the Advent of Cell Culture","authors":"F. Paim, M. Nobile, F. Foresti, Cláudio Oliveira","doi":"10.5772/INTECHOPEN.80332","DOIUrl":"https://doi.org/10.5772/INTECHOPEN.80332","url":null,"abstract":"Neotropical Ichthyofauna is considered the richest and most diverse in the world. All this biodiversity has attracted attention from researchers from different areas of study, including the cytogenetics. Many cytogenetics studies have search to understand the evolution of macro and micro karyotype structure of these different groups of fish, and classical and molecular cytogenetics techniques have contributed significantly for all knowledge of this karyotypic diversity. Recently, the use of cell cultures as an alternative to obtaining mitotic chromosomes opening up new opportunities to study groups that have not been explored or have not yet been cytogenetically investigated. In this work, we take a chronological overview of the advances of different cytogenetic techniques (“in vivo” and “in vitro” methods to obtain the chromosome, C-banding, the detection of nucleolar organizer regions (Ag-RON), fluorescent in situ hybridization (FISH) with several repetitive probes and paint chromosome) over the decades and how these techniques helped elucidate questions of the organization and function of the fish genome.","PeriodicalId":356734,"journal":{"name":"Cytogenetics - Past, Present and Further Perspectives","volume":"1 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2018-11-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"129987456","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Comparative Cytogenetics Allows the Reconstruction of Human Chromosome History: The Case of Human Chromosome 13","authors":"R. Scardino, Vanessa Milioto, F. Dumas","doi":"10.5772/INTECHOPEN.79380","DOIUrl":"https://doi.org/10.5772/INTECHOPEN.79380","url":null,"abstract":"Comparative cytogenetics permits the identification of human chromosomal homologies and rearrangements between species, allowing the reconstruction of the history of each human chromosome. The aim of this work is to review evolutionary aspects regarding human chromosome 13. Classic and molecular cytogenetics using comparative banding, chromosome painting, and bacterial artificial chromosome (BAC) mapping can help us formulate hypotheses about chromosome ancestral forms; more recently, sequence data have been integrated as well. Although it has been previously shown to be conserved when compared to the ancestral primate chromosome, it shows a degree of rearrange ments in some primate taxa; furthermore, it has been hypothesised to have a complex origin in eutherian mammals which has still not been completely clarified.","PeriodicalId":356734,"journal":{"name":"Cytogenetics - Past, Present and Further Perspectives","volume":"10 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2018-11-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"123933930","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Karyology of the Bats from the Russian Far East","authors":"U. V. Gorobeyko, I. Kartavtseva","doi":"10.5772/INTECHOPEN.78767","DOIUrl":"https://doi.org/10.5772/INTECHOPEN.78767","url":null,"abstract":"Recent studies based on morphologic and molecular genetic data have revealed quite a seri- ous variety in the trans-Palearctic species, which brought about taxonomic status changes in 14 of 18 Russian Far Eastern bat species. Far Eastern bat status revisions resulted in species growth whose chromosome characteristics have been described either under other names or have not been studied at all. This paper has inventoried bat chromosome research in the Russian Far East and neighboring regions and has improved the accuracy of chromosome characteristics for 17 of 18 valid species today. For the first time, the karyotypes and their variation type for the valid bat species in the Russian Far East have been described.","PeriodicalId":356734,"journal":{"name":"Cytogenetics - Past, Present and Further Perspectives","volume":"78 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2018-11-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"127498788","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Cytogenetics in the Study of Chromosomal Rearrangement during Wheat Evolution and Breeding","authors":"E. Salina, I. Adonina","doi":"10.5772/INTECHOPEN.80486","DOIUrl":"https://doi.org/10.5772/INTECHOPEN.80486","url":null,"abstract":"Cytogenetic methods such as chromosome banding and in situ hybridization remain relevant in the post-genomic era, especially for allopolyploid species where genome duplication in some cases makes it difficult to assess the reorganization of chromosomes during evolution. In this review, we give a brief description of cytogenetic methods for the analysis of homoeological chromosomes in cereals. Emphasis is placed on the development of methods for the study of polyploid wheat and its progenitors and on tandem repeats and retrotransposons as markers to evaluate chromosome reorganiza- tion throughout evolution and breeding. The most effective cytological probes used for the identification of chromosomes in wheat and Triticeae species by fluorescence and genomic in situ hybridization are described. Particular attention is paid to ribosomal genes used as markers in phylogenetic studies and for chromosome identification. Utility of these cytogenetic methods in the evaluation of breeding lines is demonstrated. A strategy for cytological analysis of wheat hybrids according to the degree of relationships between the species involved in crosses is also discussed.","PeriodicalId":356734,"journal":{"name":"Cytogenetics - Past, Present and Further Perspectives","volume":"1 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2018-11-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"129417893","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Cytogenomic Microarray Testing","authors":"Irene Plaza Pinto, A. D. da Cruz, E. Costa, S. S. S. Pereira, L. Minasi, A. D. da Cruz","doi":"10.5772/INTECHOPEN.80514","DOIUrl":"https://doi.org/10.5772/INTECHOPEN.80514","url":null,"abstract":"Cytogenomic microarray testing allows the detection of submicroscopic genomic rearrangements, commonly denominated copy number variations (CNVs) that are implicated with many neurodevelopmental disorders, dysmorphic features, multiple congenital anomalies, hematological and solid tumors, and complex disorders and traits in both humans and animals. On the other hand, this approach is also widely used for the identification of structural variations that are applied as a biomarker in pharmacogenomics, agriculture, and animal selection and breeding. The chromosomal microarray analysis (CMA) has been applied for over a decade to screen for submicroscopic genomic gains and losses in DNA sample in both diagnostic and functional scenarios. Herein, we present an overview of the fundamental concepts of cytogenomics and its potential application in human genetic diagnosis, agrigenomics, mutagenesis, and pharmacogenomics.","PeriodicalId":356734,"journal":{"name":"Cytogenetics - Past, Present and Further Perspectives","volume":"57 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2018-11-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"123527187","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Cytogenetic Relationships of Turkish Oaks","authors":"A. Yilmaz","doi":"10.5772/INTECHOPEN.78265","DOIUrl":"https://doi.org/10.5772/INTECHOPEN.78265","url":null,"abstract":"The genus Quercus L. represented by 18 species belonging to three sections ( Quercus L., Ilex Loudon and Cerris Loudon) in Turkey has a problematic taxonomy especially because of widespread hybridization observed frequently among oak species. In the present chapter, detailed karyotypic investigation of the 16 oak species from three sections in Turkey, their taxonomic relationships with each other and European oaks and finally situations that increase the variation and taxonomic problems among oak species in Turkey were evalu- ated to contribute to the taxonomic relationships of the genus. The somatic chromosome number in all taxa examined confirmed that the chromosome number of the genus is con - sistent with 2n = 24. However, some differences were determined among species, although similar results were observed in many oak species in Turkey contrary to European oaks.","PeriodicalId":356734,"journal":{"name":"Cytogenetics - Past, Present and Further Perspectives","volume":"28 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2018-11-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"130967086","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Application of Karyotype and Genetic Characterization Analyses for Hybrid Breeding of Epinephelus Groupers","authors":"M. Tseng, Kuan-Wei Shih","doi":"10.5772/INTECHOPEN.80414","DOIUrl":"https://doi.org/10.5772/INTECHOPEN.80414","url":null,"abstract":"In this study, karyotypes and Cyt b gene sequences of seven different species of grouper including Plectropomus leopardus , Epinephelus coioides , E . flavocaeruleus , E . fuscoguttatus , E . lanceolatus , E . polyphekadion ,and E . tukula wereexamined.Allchromosomenumbersfromseven groupers were 2n =48with ahighnumberoftelocentric chromosomes (38 – 48) andfundamen-talarmnumbers(FNs)(48 – 54).ThemitochondrialCyt b genewasusedtoestablishthebarcodes of seven groupers andanalyzephylogenetic relationships among thesespecies. Wediscovered that Epinephelus groupers should be classified as monophyly. The minimum genetic distance expressed between E . coioides and E . tukula was 0.1276. From results of the cytogenetic and molecular analyses, it was demonstrated that Plectropomus is a relatively primitive genus of grouper,while Epinephelus isamore-modernderivedgenus.Resultsalsoshowedthat E . coioides and E . tukula have similar genetic characters and karyotypes, and should be foremost considered for artificial hybridization strategies. Furthermore, information on karyotypes of species within the Epinephelus is still insufficient, and further elucidation of karyotypes of Epinephelus willbeagreathelptofuturegeneticbreedingresearch. amplified using a PCR machine (BIO-RAD MJ Mini Gradient Thermal Cycler, Conmall Biotech-nology, Singapore) with initial denaturation at 95 (cid:1) C for 3 min; 35 cycles of 95 (cid:1) C for 1 min, 50 (cid:1) C for 1 min, and 72 (cid:1) C for 1 min; with a final extension of 72 (cid:1) C for 10 min. The reaction was cooled down to 25 (cid:1) C for 10 min. PCR products of the Cyt b gene were checked using 1% agarose gel electrophoresis and then stained with ethidium bromide (EtBr; 0.5 mg/mL). Target DNA fragments were eluted with a DNA Clean/Extraction kit (GeneMark, Taichung, Taiwan). Sizes of the purified DNA fragments were checked and then stored in a (cid:4) 20 (cid:1) C freezer. DNA fragments were directly sequenced on an Applied Biosystems (ABI, Foster City, CA, USA) automated ABI3730x1 DNA sequencer using a Bigdye sequencing kit (Perkin-Elmer, Wellesley, MA, USA). FOR or UnvH primers were used in the sequencing reaction, and the PCR cycle parameters for sequencing were 35 cycles of 30 s at 95 (cid:1) C, 30 s at 50 (cid:1) C, and 1 min at 72 (cid:1) C. Cyt b sequences study. Homologous sequences were aligned using ClustalW [21] and then manually checked. Interspecific genetic distances were analyzed using the Kimura-2-parameter (K2P) model [22], and numbers of different nucleo-tides with MEGA software best-fitting models of DNA substitution the lowest Bayesian Information Criterion (BIC) scores The phylogenetic trees of Cyt b using the Neighbor-joining (NJ) [25] and Maximum-likelihood (ML) bootstrap 1000","PeriodicalId":356734,"journal":{"name":"Cytogenetics - Past, Present and Further Perspectives","volume":"151 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2018-11-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"121666423","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}