Human molecular cytogenetics: from cells to nucleotides
The field of cytogenetics has focused on studying the number, structure, function and origin of chromosomal abnormalities and the evolution of chromosomes. The development of fluorescent molecules that either directly or via an intermediate molecule bind to DNA has led to the development of fluoresc...
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| Format: | Article |
| Language: | English |
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Sociedade Brasileira de Genética
2014-01-01
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| Series: | Genetics and Molecular Biology |
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| Online Access: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572014000200006&lng=en&tlng=en |
| _version_ | 1819289566794743808 |
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| author | Mariluce Riegel |
| author_facet | Mariluce Riegel |
| author_sort | Mariluce Riegel |
| collection | DOAJ |
| description | The field of cytogenetics has focused on studying the number, structure, function and origin of chromosomal abnormalities and the evolution of chromosomes. The development of fluorescent molecules that either directly or via an intermediate molecule bind to DNA has led to the development of fluorescent in situ hybridization (FISH), a technology linking cytogenetics to molecular genetics. This technique has a wide range of applications that increased the dimension of chromosome analysis. The field of cytogenetics is particularly important for medical diagnostics and research as well as for gene ordering and mapping. Furthermore, the increased application of molecular biology techniques, such as array-based technologies, has led to improved resolution, extending the recognized range of microdeletion/microduplication syndromes and genomic disorders. In adopting these newly expanded methods, cytogeneticists have used a range of technologies to study the association between visible chromosome rearrangements and defects at the single nucleotide level. Overall, molecular cytogenetic techniques offer a remarkable number of potential applications, ranging from physical mapping to clinical and evolutionary studies, making a powerful and informative complement to other molecular and genomic approaches. This manuscript does not present a detailed history of the development of molecular cytogenetics; however, references to historical reviews and experiments have been provided whenever possible. Herein, the basic principles of molecular cytogenetics, the technologies used to identify chromosomal rearrangements and copy number changes, and the applications for cytogenetics in biomedical diagnosis and research are presented and discussed. |
| first_indexed | 2024-12-24T03:08:53Z |
| format | Article |
| id | doaj.art-97c02cc172d64b8cbb54287b5316924d |
| institution | Directory Open Access Journal |
| issn | 1678-4685 |
| language | English |
| last_indexed | 2024-12-24T03:08:53Z |
| publishDate | 2014-01-01 |
| publisher | Sociedade Brasileira de Genética |
| record_format | Article |
| series | Genetics and Molecular Biology |
| spelling | doaj.art-97c02cc172d64b8cbb54287b5316924d2022-12-21T17:17:54ZengSociedade Brasileira de GenéticaGenetics and Molecular Biology1678-46852014-01-01371 suppl 119420910.1590/S1415-47572014000200006S1415-47572014000200006Human molecular cytogenetics: from cells to nucleotidesMariluce Riegel0Hospital de ClínicasThe field of cytogenetics has focused on studying the number, structure, function and origin of chromosomal abnormalities and the evolution of chromosomes. The development of fluorescent molecules that either directly or via an intermediate molecule bind to DNA has led to the development of fluorescent in situ hybridization (FISH), a technology linking cytogenetics to molecular genetics. This technique has a wide range of applications that increased the dimension of chromosome analysis. The field of cytogenetics is particularly important for medical diagnostics and research as well as for gene ordering and mapping. Furthermore, the increased application of molecular biology techniques, such as array-based technologies, has led to improved resolution, extending the recognized range of microdeletion/microduplication syndromes and genomic disorders. In adopting these newly expanded methods, cytogeneticists have used a range of technologies to study the association between visible chromosome rearrangements and defects at the single nucleotide level. Overall, molecular cytogenetic techniques offer a remarkable number of potential applications, ranging from physical mapping to clinical and evolutionary studies, making a powerful and informative complement to other molecular and genomic approaches. This manuscript does not present a detailed history of the development of molecular cytogenetics; however, references to historical reviews and experiments have been provided whenever possible. Herein, the basic principles of molecular cytogenetics, the technologies used to identify chromosomal rearrangements and copy number changes, and the applications for cytogenetics in biomedical diagnosis and research are presented and discussed.http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572014000200006&lng=en&tlng=enmolecular cytogeneticsFISHarray-CGHcopy number variationgenomic disorders |
| spellingShingle | Mariluce Riegel Human molecular cytogenetics: from cells to nucleotides Genetics and Molecular Biology molecular cytogenetics FISH array-CGH copy number variation genomic disorders |
| title | Human molecular cytogenetics: from cells to nucleotides |
| title_full | Human molecular cytogenetics: from cells to nucleotides |
| title_fullStr | Human molecular cytogenetics: from cells to nucleotides |
| title_full_unstemmed | Human molecular cytogenetics: from cells to nucleotides |
| title_short | Human molecular cytogenetics: from cells to nucleotides |
| title_sort | human molecular cytogenetics from cells to nucleotides |
| topic | molecular cytogenetics FISH array-CGH copy number variation genomic disorders |
| url | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572014000200006&lng=en&tlng=en |
| work_keys_str_mv | AT mariluceriegel humanmolecularcytogeneticsfromcellstonucleotides |