Pub Date : 2021-07-14DOI: 10.5772/INTECHOPEN.96877
Vishnu Sharma, Tarun Kr. Kumawat, G. Sharma, R. Garg, M. Biyani
Cytokeratins are keratinous protein and assist cells to reduce mechanical stress on the intracytoplasmic layer of epithelial tissue. There are several unspecified mutations in the epithelial layer that may induces by environmental mutagens and pathogens. The unspecified mutations in the epithelium surface also disrupt biology of skin at multiple different levels and cause innate keratinizing disorders. These serve as a root generator of neurohormones and neuropeptides which mainly partake in the disruption. Generally, all 54 unique genes of human keratin partake in mutations and cause cutaneous tissue fragility, skin hypertrophic, and malignant transformation. In this chapter, unspecific factors that involved in the pathogenesis of skin diseases and the ways by which such keratin changes might harness to alleviate different skin conditions are also included. Consequently, the contribution of environmental changes in the frontier of mutations or misregulations of the cytokeratin genes, is also cited here.
{"title":"Contribution of Environmental Constituents in the Genomic Disruption of Cytokeratins","authors":"Vishnu Sharma, Tarun Kr. Kumawat, G. Sharma, R. Garg, M. Biyani","doi":"10.5772/INTECHOPEN.96877","DOIUrl":"https://doi.org/10.5772/INTECHOPEN.96877","url":null,"abstract":"Cytokeratins are keratinous protein and assist cells to reduce mechanical stress on the intracytoplasmic layer of epithelial tissue. There are several unspecified mutations in the epithelial layer that may induces by environmental mutagens and pathogens. The unspecified mutations in the epithelium surface also disrupt biology of skin at multiple different levels and cause innate keratinizing disorders. These serve as a root generator of neurohormones and neuropeptides which mainly partake in the disruption. Generally, all 54 unique genes of human keratin partake in mutations and cause cutaneous tissue fragility, skin hypertrophic, and malignant transformation. In this chapter, unspecific factors that involved in the pathogenesis of skin diseases and the ways by which such keratin changes might harness to alleviate different skin conditions are also included. Consequently, the contribution of environmental changes in the frontier of mutations or misregulations of the cytokeratin genes, is also cited here.","PeriodicalId":137101,"journal":{"name":"Cytogenetics - Classical and Molecular Strategies for Analysing Heredity Material","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2021-07-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"133707862","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}
Pub Date : 2021-07-14DOI: 10.5772/INTECHOPEN.97143
Koluru Honnegowda Venkatesh
Mulberry leaves are primary food for silkworm, Bombyx mori L. to feed silkworms and harvest quality silk cocoons. Mulberry belongs to family Moraceae and includes 60 species found distributed in both Hemisphere. In mulberry, chromosome numbers are varies from 2n = 28 to 22n = 308 (Diploid to Decosoploid) with ploidy level x to 22x. Based on chromosome numbers and meiotic behaviors x = 14 has been considered as basic chromosome numbers of the genus. In the present study, two diploids, two uneuploids, two triploids and two teteraploids mulberry varieties were selected for detailed chromosomal numbers and meiotic behaviors belongs to three species, namely Morus indica, Morus alba and Morus latifolia. Varieties, Vishaala and Kosen were diploids with 2n = 2x = 28 chromosomes and varieties Ber-S1 and S13 were uneuploids with 2n = 30 chromosomes belongs Morus indica. Varieties NAO Khurkul and KPG-1 were triploids with 2n = 3x = 42 chromosomes belongs to Moru alba and varieties Kokuso and Icheihei were tetraploids with 2n = 4x = 56 chromosomes. Diploids and uneuploids were showed normal meiosis with high pollen fertility and triploids and teteraploids were showed abnormal meiosis with low pollen fertility, due to virtue of higher ploidy level have been discussed in this chapter.
{"title":"Studies on Basic Chromosome Number, Ploidy Level, Chromosomal Association and Configuration and Meiotic Behavior in Mulberry (Morus Spp.)","authors":"Koluru Honnegowda Venkatesh","doi":"10.5772/INTECHOPEN.97143","DOIUrl":"https://doi.org/10.5772/INTECHOPEN.97143","url":null,"abstract":"Mulberry leaves are primary food for silkworm, Bombyx mori L. to feed silkworms and harvest quality silk cocoons. Mulberry belongs to family Moraceae and includes 60 species found distributed in both Hemisphere. In mulberry, chromosome numbers are varies from 2n = 28 to 22n = 308 (Diploid to Decosoploid) with ploidy level x to 22x. Based on chromosome numbers and meiotic behaviors x = 14 has been considered as basic chromosome numbers of the genus. In the present study, two diploids, two uneuploids, two triploids and two teteraploids mulberry varieties were selected for detailed chromosomal numbers and meiotic behaviors belongs to three species, namely Morus indica, Morus alba and Morus latifolia. Varieties, Vishaala and Kosen were diploids with 2n = 2x = 28 chromosomes and varieties Ber-S1 and S13 were uneuploids with 2n = 30 chromosomes belongs Morus indica. Varieties NAO Khurkul and KPG-1 were triploids with 2n = 3x = 42 chromosomes belongs to Moru alba and varieties Kokuso and Icheihei were tetraploids with 2n = 4x = 56 chromosomes. Diploids and uneuploids were showed normal meiosis with high pollen fertility and triploids and teteraploids were showed abnormal meiosis with low pollen fertility, due to virtue of higher ploidy level have been discussed in this chapter.","PeriodicalId":137101,"journal":{"name":"Cytogenetics - Classical and Molecular Strategies for Analysing Heredity Material","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2021-07-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"124955106","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}
Pub Date : 2021-05-10DOI: 10.5772/INTECHOPEN.94929
D. Matoso, M. Silva, Hallana Cristina Menezes da Silva, E. Feldberg, R. Artoni
Transcriptionally inactive portions of genomic DNA, condensed with histones and architectural proteins, are known as heterochromatic regions, often positive C band. The advent of epigenetics and new methodological approaches, showed that these regions are extremely dynamic and responsive to different types of environmental stress. The relationship of the constitutive heterochromatin with the transposable elements inactivation, especially from the Rex family, seems to be a frequent condition in fish. In this manuscript we review the existing knowledge of the nature and function of these genomic regions, based on species-based studies, with a focus on species of fish from the Amazon region.
{"title":"Heterochromatin Dynamics in Response to Environmental Stress in Amazonian Fish","authors":"D. Matoso, M. Silva, Hallana Cristina Menezes da Silva, E. Feldberg, R. Artoni","doi":"10.5772/INTECHOPEN.94929","DOIUrl":"https://doi.org/10.5772/INTECHOPEN.94929","url":null,"abstract":"Transcriptionally inactive portions of genomic DNA, condensed with histones and architectural proteins, are known as heterochromatic regions, often positive C band. The advent of epigenetics and new methodological approaches, showed that these regions are extremely dynamic and responsive to different types of environmental stress. The relationship of the constitutive heterochromatin with the transposable elements inactivation, especially from the Rex family, seems to be a frequent condition in fish. In this manuscript we review the existing knowledge of the nature and function of these genomic regions, based on species-based studies, with a focus on species of fish from the Amazon region.","PeriodicalId":137101,"journal":{"name":"Cytogenetics - Classical and Molecular Strategies for Analysing Heredity Material","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2021-05-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"129124541","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}
Pub Date : 2021-05-07DOI: 10.5772/INTECHOPEN.97673
M. Silva, D. Matoso, V. P. Margarido, E. Feldberg, R. Artoni
Fishes of the genus Gymnotus have been suggested as a good model for biogeographic studies in the South American continent. In relation to heterochromatin, species of this genus have blocks preferably distributed in the centromeric region. The content of these regions has been shown to be variable, with description of transposable elements, pseudogenes of 5S rDNA and satellite sequences. In G. carapo Clade, although geographically separated, species with 2n = 54 chromosomes share the distribution of many 5S rDNA sites, a unique case within the genus. Here, repetitive DNA sequences from G. sylvius (2n = 40) and G. paraguensis (2n = 54) were isolated and mapped to understand their constitution. The chromosome mapping by FISH showed an exclusive association in the centromeres of all chromosomes. However, the cross-FISH did not show positive signs of interspecific hybridization, indicating high levels of heterochromatic sequence specificity. In addition, COI-1 sequences were analyzed in some species of Gymnotus, which revealed a close relationship between species of clade 2n = 54, which have multiple 5S rDNA sites. Possibly, the insertion of retroelements or pseudogenization and dispersion of this sequence occurred before the geographic dispersion of the ancestor of this clade from the Amazon region to the hydrographic systems of Paraná-Paraguay, a synapomorphy for the group.
{"title":"Composition and Nature of Heterochromatin in the Electrical Fish (Knifefishes) Gymnotus (Gymnotiformes: Gymnotidae)","authors":"M. Silva, D. Matoso, V. P. Margarido, E. Feldberg, R. Artoni","doi":"10.5772/INTECHOPEN.97673","DOIUrl":"https://doi.org/10.5772/INTECHOPEN.97673","url":null,"abstract":"Fishes of the genus Gymnotus have been suggested as a good model for biogeographic studies in the South American continent. In relation to heterochromatin, species of this genus have blocks preferably distributed in the centromeric region. The content of these regions has been shown to be variable, with description of transposable elements, pseudogenes of 5S rDNA and satellite sequences. In G. carapo Clade, although geographically separated, species with 2n = 54 chromosomes share the distribution of many 5S rDNA sites, a unique case within the genus. Here, repetitive DNA sequences from G. sylvius (2n = 40) and G. paraguensis (2n = 54) were isolated and mapped to understand their constitution. The chromosome mapping by FISH showed an exclusive association in the centromeres of all chromosomes. However, the cross-FISH did not show positive signs of interspecific hybridization, indicating high levels of heterochromatic sequence specificity. In addition, COI-1 sequences were analyzed in some species of Gymnotus, which revealed a close relationship between species of clade 2n = 54, which have multiple 5S rDNA sites. Possibly, the insertion of retroelements or pseudogenization and dispersion of this sequence occurred before the geographic dispersion of the ancestor of this clade from the Amazon region to the hydrographic systems of Paraná-Paraguay, a synapomorphy for the group.","PeriodicalId":137101,"journal":{"name":"Cytogenetics - Classical and Molecular Strategies for Analysing Heredity Material","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2021-05-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"122276178","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}
Pub Date : 2021-05-05DOI: 10.5772/INTECHOPEN.96913
M. Bendari, S. Sraidi, N. Khoubila
Genetic defects play a major role in pathogenesis of the most of haematological malignancies, including cytogenetic abnormalities, gene mutations, and abnormal gene expression. Our knowledge about the genetics of haematological disorders has been dramatically improved during the past decade, due to revolution of sequencing technologies which have played a crucial role. In this chapter, we describe the techniques commonly employed for elucidating chromosomal aberrations, prognostic impact of recurrent chromosomal abnormalities, and recently updated risk stratification systems. We will summarise the chromosomal abnormalities recently identified on many of haematological diseases such acute myeloid leukaemia, acute lymphoid leukaemia, myelodysplasic syndrome, multiple myeloma, meyloproliferative disease and clarify their impacts on clinical phenotype and prognosis, as well as their role in the pathogenesis of these diseases. The aim of this chapter is to provide a brief overview of the recent progresses in haematological diseases genetics.
{"title":"Haematological Malignancies: Overview of the Recent Progresses in Genetics","authors":"M. Bendari, S. Sraidi, N. Khoubila","doi":"10.5772/INTECHOPEN.96913","DOIUrl":"https://doi.org/10.5772/INTECHOPEN.96913","url":null,"abstract":"Genetic defects play a major role in pathogenesis of the most of haematological malignancies, including cytogenetic abnormalities, gene mutations, and abnormal gene expression. Our knowledge about the genetics of haematological disorders has been dramatically improved during the past decade, due to revolution of sequencing technologies which have played a crucial role. In this chapter, we describe the techniques commonly employed for elucidating chromosomal aberrations, prognostic impact of recurrent chromosomal abnormalities, and recently updated risk stratification systems. We will summarise the chromosomal abnormalities recently identified on many of haematological diseases such acute myeloid leukaemia, acute lymphoid leukaemia, myelodysplasic syndrome, multiple myeloma, meyloproliferative disease and clarify their impacts on clinical phenotype and prognosis, as well as their role in the pathogenesis of these diseases. The aim of this chapter is to provide a brief overview of the recent progresses in haematological diseases genetics.","PeriodicalId":137101,"journal":{"name":"Cytogenetics - Classical and Molecular Strategies for Analysing Heredity Material","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2021-05-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"122300415","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}
Pub Date : 2021-04-28DOI: 10.5772/INTECHOPEN.97112
M. Bendari, N. Khoubila
Myelodysplasia syndromes (MDS) are defined by a heterogeneous group of myeloid malignancies characterized by peripheral blood cytopenia and dishematopoiesis and frequently progress to acute myeloid leukemia. Conventional karyotype has a crucial role in myelodysplastic syndrome (MDS) and is one of items of the International Prognostic Scoring System (IPSS) for patient risk stratification and treatment selection. Approximately 50–60% of cases of MDS present chromosomal abnormalities, like the deletions of chromosome 5q and 7q, trisomy 8, and complex karyotypes. New genomic technologies have been developted, like single-nucleotide polymorphism array and next-generation sequencing. They can identify the heterozygous deletions wich result in haplo-insufficient gene expression (e.g., CSNK1A1, DDX41 on chromosome 5, CUX1, LUC7L2, EZH2 on chromosome 7) involved in the pathogenesis of myelodysplasia syndromes. Genetic abnormalities are multiple, the most recurrent one are involved in the RNA splicing like SF3B1, SRSF2, U2AF1, ZRSR2, LUC7L2, and DDX41. Epigenetic modifications are also identified, such as histone modification as ASXL1, EZH2. Finally, it can be DNA methylation (e.g., TET2, DNMT3A, IDH1/IDH2). On this review we will summarize the most recent progress in molecular pathogenesis of MDS, and try to better understand the pathogenesis of the specific subgroups of MDS patients and applications of discovery of new genetic mutation in the development of new therapeutic.
{"title":"Cytogenetic and Genetic Advances in Myelodysplasia Syndromes","authors":"M. Bendari, N. Khoubila","doi":"10.5772/INTECHOPEN.97112","DOIUrl":"https://doi.org/10.5772/INTECHOPEN.97112","url":null,"abstract":"Myelodysplasia syndromes (MDS) are defined by a heterogeneous group of myeloid malignancies characterized by peripheral blood cytopenia and dishematopoiesis and frequently progress to acute myeloid leukemia. Conventional karyotype has a crucial role in myelodysplastic syndrome (MDS) and is one of items of the International Prognostic Scoring System (IPSS) for patient risk stratification and treatment selection. Approximately 50–60% of cases of MDS present chromosomal abnormalities, like the deletions of chromosome 5q and 7q, trisomy 8, and complex karyotypes. New genomic technologies have been developted, like single-nucleotide polymorphism array and next-generation sequencing. They can identify the heterozygous deletions wich result in haplo-insufficient gene expression (e.g., CSNK1A1, DDX41 on chromosome 5, CUX1, LUC7L2, EZH2 on chromosome 7) involved in the pathogenesis of myelodysplasia syndromes. Genetic abnormalities are multiple, the most recurrent one are involved in the RNA splicing like SF3B1, SRSF2, U2AF1, ZRSR2, LUC7L2, and DDX41. Epigenetic modifications are also identified, such as histone modification as ASXL1, EZH2. Finally, it can be DNA methylation (e.g., TET2, DNMT3A, IDH1/IDH2). On this review we will summarize the most recent progress in molecular pathogenesis of MDS, and try to better understand the pathogenesis of the specific subgroups of MDS patients and applications of discovery of new genetic mutation in the development of new therapeutic.","PeriodicalId":137101,"journal":{"name":"Cytogenetics - Classical and Molecular Strategies for Analysing Heredity Material","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2021-04-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"132454658","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}
Pub Date : 2021-04-21DOI: 10.5772/INTECHOPEN.97247
T. Zybina
The placental trophoblast cells give an example of profound genome modifications that lead to whole-genome multiplication, aneuploidy, under-replication of some genes or their clusters as well as, by contrast, gene amplification. These events are included into program of differentiation of functionally different cell lineages. In some cases the trophoblast cell differentiation involves depolyploidization achieved by non-mitotic division. Aneuploidy may be also accounted for by the unusual mitoses characteristic of Invertebrates and plants; in mammalian it may result from hypomethylation of centromere chromosome regions. The giant (endopolyploid) trophoblast cells organization includes “loose nucleosomes” accounted for by the non-canonical histone variants, i.e. H2AX, H2AZ, and H3. 3 . In the human extravillous trophoblast cells that, like murine TGC, invade endometrium, there occured significant changes of methylation as compared to non-invasive trophoblast cell populations . Meantime, some genes show hypermethylation connected with start of trophoblast lineages specification. Thus, despite the limited possibilities of chromosome visualization trophoblast cells represent an interesting model to investigate the role of modification of gene copy number and their expression that is important for the normal or abnormal cell differentiation.
{"title":"Genome Modifications Involved in Developmental Programs of the Placental Trophoblast","authors":"T. Zybina","doi":"10.5772/INTECHOPEN.97247","DOIUrl":"https://doi.org/10.5772/INTECHOPEN.97247","url":null,"abstract":"The placental trophoblast cells give an example of profound genome modifications that lead to whole-genome multiplication, aneuploidy, under-replication of some genes or their clusters as well as, by contrast, gene amplification. These events are included into program of differentiation of functionally different cell lineages. In some cases the trophoblast cell differentiation involves depolyploidization achieved by non-mitotic division. Aneuploidy may be also accounted for by the unusual mitoses characteristic of Invertebrates and plants; in mammalian it may result from hypomethylation of centromere chromosome regions. The giant (endopolyploid) trophoblast cells organization includes “loose nucleosomes” accounted for by the non-canonical histone variants, i.e. H2AX, H2AZ, and H3. 3 . In the human extravillous trophoblast cells that, like murine TGC, invade endometrium, there occured significant changes of methylation as compared to non-invasive trophoblast cell populations . Meantime, some genes show hypermethylation connected with start of trophoblast lineages specification. Thus, despite the limited possibilities of chromosome visualization trophoblast cells represent an interesting model to investigate the role of modification of gene copy number and their expression that is important for the normal or abnormal cell differentiation.","PeriodicalId":137101,"journal":{"name":"Cytogenetics - Classical and Molecular Strategies for Analysing Heredity Material","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2021-04-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"114495565","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}
Pub Date : 2021-04-19DOI: 10.5772/INTECHOPEN.97429
Bendari Mounia, S. Sraidi, N. Khoubila
Acute lymphoblastic leukemia (ALL), can be defined by a family of genetically heterogeneous lymphoid neoplasms derived from B- and T-lymphoid progenitors. ALL constitutes the most common childhood cancer, due to an overproduction of immature lymphoid hematopoietic cells. Genetic analyzes currently provides important information for classifying patients into prognostic groups, genetic analysis also helps to understand the mechanisms of relapse, pharmacogenetics and the development of new potential therapeutic targets, which should help to further improve the results of leukemia. In fact, the new techniques in molecular cytogenetic permits to identify new cryptic abnormalities, these discoveries have led to the development of new therapeutic protocols. The role of cytogenetic analysis is crucial on ALL patient’s management. Karyotyping coupled with FISH analysis identifies recurrent chromosomal abnormalities in ALL, many of these abnormalities have prognostic and treatment impact. This chapter summarizes chromosomal abnormalities that are common and classify ALL according to the World Health Organization (WHO) classifications (2016 revision). We will present the main genetic modifications recently identified as well as the sequence mutations which have helped in the elucidation of the pathogenesis of ALL.
{"title":"Genetic Abnormalities in ALL","authors":"Bendari Mounia, S. Sraidi, N. Khoubila","doi":"10.5772/INTECHOPEN.97429","DOIUrl":"https://doi.org/10.5772/INTECHOPEN.97429","url":null,"abstract":"Acute lymphoblastic leukemia (ALL), can be defined by a family of genetically heterogeneous lymphoid neoplasms derived from B- and T-lymphoid progenitors. ALL constitutes the most common childhood cancer, due to an overproduction of immature lymphoid hematopoietic cells. Genetic analyzes currently provides important information for classifying patients into prognostic groups, genetic analysis also helps to understand the mechanisms of relapse, pharmacogenetics and the development of new potential therapeutic targets, which should help to further improve the results of leukemia. In fact, the new techniques in molecular cytogenetic permits to identify new cryptic abnormalities, these discoveries have led to the development of new therapeutic protocols. The role of cytogenetic analysis is crucial on ALL patient’s management. Karyotyping coupled with FISH analysis identifies recurrent chromosomal abnormalities in ALL, many of these abnormalities have prognostic and treatment impact. This chapter summarizes chromosomal abnormalities that are common and classify ALL according to the World Health Organization (WHO) classifications (2016 revision). We will present the main genetic modifications recently identified as well as the sequence mutations which have helped in the elucidation of the pathogenesis of ALL.","PeriodicalId":137101,"journal":{"name":"Cytogenetics - Classical and Molecular Strategies for Analysing Heredity Material","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2021-04-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"114288246","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}
Pub Date : 2021-02-17DOI: 10.5772/INTECHOPEN.96242
Sanjay Kumar, Asikho Kiso, N. A. Kithan
Chromosome identification depends on the morphological features of the chromosome and therefore karyotype and its banding pattern analyses are the most suitable technique to identify each and every chromosome of a chromosome complement. Moreover, aberrations caused by breaks play an important role in the evolution of a chromosome set and chromosome complement by decreasing or increasing the chromosome number. Therefore, both the aspects are discussed in detail in the present chapter. At present, the chapter will highlight the karyotype and its components, karyotype trends, evolution and its role in speciation, banding pattern and techniques, chromosome differentiation and linearization, banding applications and their uses, detection and analysis of chromosomal aberrations, chromosome and chromatid types of aberrations and mechanism of the formation of chromosome aberrations and breaks for karyotype evolutionary trends.
{"title":"Chromosome Banding and Mechanism of Chromosome Aberrations","authors":"Sanjay Kumar, Asikho Kiso, N. A. Kithan","doi":"10.5772/INTECHOPEN.96242","DOIUrl":"https://doi.org/10.5772/INTECHOPEN.96242","url":null,"abstract":"Chromosome identification depends on the morphological features of the chromosome and therefore karyotype and its banding pattern analyses are the most suitable technique to identify each and every chromosome of a chromosome complement. Moreover, aberrations caused by breaks play an important role in the evolution of a chromosome set and chromosome complement by decreasing or increasing the chromosome number. Therefore, both the aspects are discussed in detail in the present chapter. At present, the chapter will highlight the karyotype and its components, karyotype trends, evolution and its role in speciation, banding pattern and techniques, chromosome differentiation and linearization, banding applications and their uses, detection and analysis of chromosomal aberrations, chromosome and chromatid types of aberrations and mechanism of the formation of chromosome aberrations and breaks for karyotype evolutionary trends.","PeriodicalId":137101,"journal":{"name":"Cytogenetics - Classical and Molecular Strategies for Analysing Heredity Material","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2021-02-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"125180898","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}
Pub Date : 2021-02-04DOI: 10.5772/INTECHOPEN.95865
Yahya Benbouchta, Ahmed Afailal Tribak, K. Sadki
Myeloproliferative syndromes are cell proliferation involving one or more medullary lines without blocking maturation. Chronic myeloid leukemia (CML) is the most common of these syndromes, it corresponds to the monoclonal proliferation of a multipotent stem cell; the myeloblastic or lymphoblastic transformation of CM. has a poor prognosis. The Philadelphia chromosome t(9;22)(q34;q11) is the first cytogenetic abnormality that has been associated with a malignant process. It is found in 89 to 95% of CML. The search for the Philadelphia chromosome (Ph1) has multiple interests: Diagnostic, prognostic and in therapeutic monitoring. The search for the Philadelphia chromosome by molecular cytogenetics makes it possible to remedy the poverty of cell suspensions in metaphase to take up the inconclusive results of classic cytogenetics on nuclei in interphase and to detect residual disease during therapeutic monitoring. Through the literature review, we highlight the importance of the identification of the Philadelphia chromosome in Myeloproliferative Syndromes for the improvement of the quality healthcare of the affected patients.
{"title":"Research of the Philadelphia Chromosome in Chronic Myeloid Leukemia: Diagnostic and Prognostic Interests","authors":"Yahya Benbouchta, Ahmed Afailal Tribak, K. Sadki","doi":"10.5772/INTECHOPEN.95865","DOIUrl":"https://doi.org/10.5772/INTECHOPEN.95865","url":null,"abstract":"Myeloproliferative syndromes are cell proliferation involving one or more medullary lines without blocking maturation. Chronic myeloid leukemia (CML) is the most common of these syndromes, it corresponds to the monoclonal proliferation of a multipotent stem cell; the myeloblastic or lymphoblastic transformation of CM. has a poor prognosis. The Philadelphia chromosome t(9;22)(q34;q11) is the first cytogenetic abnormality that has been associated with a malignant process. It is found in 89 to 95% of CML. The search for the Philadelphia chromosome (Ph1) has multiple interests: Diagnostic, prognostic and in therapeutic monitoring. The search for the Philadelphia chromosome by molecular cytogenetics makes it possible to remedy the poverty of cell suspensions in metaphase to take up the inconclusive results of classic cytogenetics on nuclei in interphase and to detect residual disease during therapeutic monitoring. Through the literature review, we highlight the importance of the identification of the Philadelphia chromosome in Myeloproliferative Syndromes for the improvement of the quality healthcare of the affected patients.","PeriodicalId":137101,"journal":{"name":"Cytogenetics - Classical and Molecular Strategies for Analysing Heredity Material","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2021-02-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"125697208","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}
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