Microarray-based comparative genomic hybridization (aCGH) between basic research and clinical diagnostic
In the vast spectrum of human pathology, a significant proportion is represented by genetic disorders. To elucidate the mechanisms leading to disease, various approaches have been used: G-banded karyotyping and FISH allow the survey of the entire genome for large aberrations or analysis of pre-defin...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
"Alexandru Ioan Cuza" University of Iași
2010-06-01
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| Series: | Analele Ştiinţifice Ale Universităţii Alexandru Ioan Cuza din Iași,Sectiunea II A : Genetica si Biologie Moleculara |
| Online Access: | http://www.gbm.bio.uaic.ro/index.php/gbm/article/view/769 |
| Summary: | In the vast spectrum of human pathology, a significant proportion is represented by genetic disorders. To
elucidate the mechanisms leading to disease, various approaches have been used: G-banded karyotyping and FISH allow
the survey of the entire genome for large aberrations or analysis of pre-defined segments, while sequencing detects
nucleotide alterations with the prior requirement of knowing which DNA segment to address. The last two decades have
seen the rise of another generation of investigative methods, such as aCGH, which inquire the condition of the whole
genome at sequence level; starting as a research instrument, aCGH is increasingly regarded as a powerful diagnostic tool
for clinical use. As an example of its utility in the diagnostic of mental retardation, we present three cases where aCGH
contributed to the identification and refinement of the precise genetic aberrations. |
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| ISSN: | 1582-3571 2248-3276 |