Application of modern methods of molecular genetics In practice
Конференцијски прилог (Објављена верзија)
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Introduction: The development of new methods of molecular genetics,
especially in the last two decades, has led to enormous progress in
the field of medicine and enabled more comprehensive prenatal and
postnatal diagnosis of hereditary diseases and other disorders, as well as
preimplantation testing.
Aim: The aim of the work is to present modern methods of molecular
genetics and their application in the diagnosis of hereditary diseases and
developmental disorders.
Methods: Having reviewed the relevant literature, insight was gained into
the current development of molecular genetic methods and their practical
application.
Results: Chromosome microarray is an analysis of all chromosomes in the
genome, which, thanks to microchip technology, enables the detection of
chromosomal microdeletions and microduplications, as well as changes in
the number of copies, in just one reaction. This method has found application
in all areas of clinical genetics, and especially in the detec...tion of genomic
changes in patients with intellectual disabilities, developmental delays, autism
spectrum disorders and congenital anomalies. The gene microarray is also
based on microchip technology, and depending on the type of DNA chip used,
it is used to detect mutations and DNA variations at the level of the entire
genome or to study gene expression. The rapid development of biotechnology
and bioinformatics has enabled the simultaneous analysis of a large number
of genes through parallel (deep) sequencing, known as a new generation
of DNA sequencing methods. This technology detects already known gene
variants, new ones, as well as the presence of a predisposition. Today, in
clinical practice, differently designed gene panels are used for postnatal
diagnosis of monogenic and multifactorial diseases. Particularly noteworthy
are the “clinical exome” panels with over 6,000 genes, the whole exome
(about 22,000 genes) or the whole genome.Conclusion: Modern times have marked the development and improvement
of molecular genetics methods for quick and more accurate diagnosis
of hereditary diseases and developmental disorders, which gives a new
perspective on the possibilities of prenatal, postnatal and preimplantation
genetic testing.
Кључне речи:
hereditary diseases / molecular methods / diagnosisИзвор:
Zbornik radova - 12. Međunarodni naučni skup Specijalna edukacija i rehabilitacija danas Beograd, 27–28. oktobar 2023. Godine, 2023, 53-61Издавач:
- Univerzitet u Beogradu – Fakultet za specijalnu edukaciju i rehabilitaciju/ University of Belgrade – Faculty of Special Education and Rehabilitation
Колекције
Институција/група
rFASPERTY - CONF AU - Maksić, Jasmina PY - 2023 UR - http://rfasper.fasper.bg.ac.rs/handle/123456789/5325 AB - Introduction: The development of new methods of molecular genetics, especially in the last two decades, has led to enormous progress in the field of medicine and enabled more comprehensive prenatal and postnatal diagnosis of hereditary diseases and other disorders, as well as preimplantation testing. Aim: The aim of the work is to present modern methods of molecular genetics and their application in the diagnosis of hereditary diseases and developmental disorders. Methods: Having reviewed the relevant literature, insight was gained into the current development of molecular genetic methods and their practical application. Results: Chromosome microarray is an analysis of all chromosomes in the genome, which, thanks to microchip technology, enables the detection of chromosomal microdeletions and microduplications, as well as changes in the number of copies, in just one reaction. This method has found application in all areas of clinical genetics, and especially in the detection of genomic changes in patients with intellectual disabilities, developmental delays, autism spectrum disorders and congenital anomalies. The gene microarray is also based on microchip technology, and depending on the type of DNA chip used, it is used to detect mutations and DNA variations at the level of the entire genome or to study gene expression. The rapid development of biotechnology and bioinformatics has enabled the simultaneous analysis of a large number of genes through parallel (deep) sequencing, known as a new generation of DNA sequencing methods. This technology detects already known gene variants, new ones, as well as the presence of a predisposition. Today, in clinical practice, differently designed gene panels are used for postnatal diagnosis of monogenic and multifactorial diseases. Particularly noteworthy are the “clinical exome” panels with over 6,000 genes, the whole exome (about 22,000 genes) or the whole genome.Conclusion: Modern times have marked the development and improvement of molecular genetics methods for quick and more accurate diagnosis of hereditary diseases and developmental disorders, which gives a new perspective on the possibilities of prenatal, postnatal and preimplantation genetic testing. PB - Univerzitet u Beogradu – Fakultet za specijalnu edukaciju i rehabilitaciju/ University of Belgrade – Faculty of Special Education and Rehabilitation C3 - Zbornik radova - 12. Međunarodni naučni skup Specijalna edukacija i rehabilitacija danas Beograd, 27–28. oktobar 2023. Godine T1 - Application of modern methods of molecular genetics In practice EP - 61 SP - 53 UR - https://hdl.handle.net/21.15107/rcub_rfasper_5325 ER -
@conference{ author = "Maksić, Jasmina", year = "2023", abstract = "Introduction: The development of new methods of molecular genetics, especially in the last two decades, has led to enormous progress in the field of medicine and enabled more comprehensive prenatal and postnatal diagnosis of hereditary diseases and other disorders, as well as preimplantation testing. Aim: The aim of the work is to present modern methods of molecular genetics and their application in the diagnosis of hereditary diseases and developmental disorders. Methods: Having reviewed the relevant literature, insight was gained into the current development of molecular genetic methods and their practical application. Results: Chromosome microarray is an analysis of all chromosomes in the genome, which, thanks to microchip technology, enables the detection of chromosomal microdeletions and microduplications, as well as changes in the number of copies, in just one reaction. This method has found application in all areas of clinical genetics, and especially in the detection of genomic changes in patients with intellectual disabilities, developmental delays, autism spectrum disorders and congenital anomalies. The gene microarray is also based on microchip technology, and depending on the type of DNA chip used, it is used to detect mutations and DNA variations at the level of the entire genome or to study gene expression. The rapid development of biotechnology and bioinformatics has enabled the simultaneous analysis of a large number of genes through parallel (deep) sequencing, known as a new generation of DNA sequencing methods. This technology detects already known gene variants, new ones, as well as the presence of a predisposition. Today, in clinical practice, differently designed gene panels are used for postnatal diagnosis of monogenic and multifactorial diseases. Particularly noteworthy are the “clinical exome” panels with over 6,000 genes, the whole exome (about 22,000 genes) or the whole genome.Conclusion: Modern times have marked the development and improvement of molecular genetics methods for quick and more accurate diagnosis of hereditary diseases and developmental disorders, which gives a new perspective on the possibilities of prenatal, postnatal and preimplantation genetic testing.", publisher = "Univerzitet u Beogradu – Fakultet za specijalnu edukaciju i rehabilitaciju/ University of Belgrade – Faculty of Special Education and Rehabilitation", journal = "Zbornik radova - 12. Međunarodni naučni skup Specijalna edukacija i rehabilitacija danas Beograd, 27–28. oktobar 2023. Godine", title = "Application of modern methods of molecular genetics In practice", pages = "61-53", url = "https://hdl.handle.net/21.15107/rcub_rfasper_5325" }
Maksić, J.. (2023). Application of modern methods of molecular genetics In practice. in Zbornik radova - 12. Međunarodni naučni skup Specijalna edukacija i rehabilitacija danas Beograd, 27–28. oktobar 2023. Godine Univerzitet u Beogradu – Fakultet za specijalnu edukaciju i rehabilitaciju/ University of Belgrade – Faculty of Special Education and Rehabilitation., 53-61. https://hdl.handle.net/21.15107/rcub_rfasper_5325
Maksić J. Application of modern methods of molecular genetics In practice. in Zbornik radova - 12. Međunarodni naučni skup Specijalna edukacija i rehabilitacija danas Beograd, 27–28. oktobar 2023. Godine. 2023;:53-61. https://hdl.handle.net/21.15107/rcub_rfasper_5325 .
Maksić, Jasmina, "Application of modern methods of molecular genetics In practice" in Zbornik radova - 12. Međunarodni naučni skup Specijalna edukacija i rehabilitacija danas Beograd, 27–28. oktobar 2023. Godine (2023):53-61, https://hdl.handle.net/21.15107/rcub_rfasper_5325 .