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Year:
2000
| Volume: 8
| Issue: 4
| Pages: 171-176
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Review Article |
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TECHNIQUES AND TECHNOLOGIES FOR DETECTION OF GENOMIC ABNORMALITIES
Sevtap SAVAS, Betul KIRDAR, Bronya J.B. KEATS |
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DOI:
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Abstract: |
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Identification of both genetic and epigenetic alterations on DNA is a major interest of molecular biology and medicine. New generation FISH techniques such as comparative genome hybridization (CGH), matrix-based CGH, and Spectral Karyotyping enable researchers to identify either partial or whole loss/gain of chromosomes or more complex rearrangements in a more specific way, and thus improve and contribute to the elucidation of gross genomic abnormalities. Detection of relatively small DNA alterations such as micro deletions, insertions, duplications, and substitutions is also highly valuable for identification of causative mutations, mapping studies, and determination of population profiles. In addition to the conventional Southern Blot technique, a growing number of Polymerase Chain Reaction (PCR)-based approaches are applied to detect quantitative and qualitative differences in the DNA sequences. Moreover, application of highly sophisticated technologies allows simultaneous examination of large numbers of test samples for multiple sequence alterations. In addition to these changes along the DNA sequence, the existence and the degree of DNA methylation, the epigenetic mechanism associated with selective gene silencing, can be explored by using a variety of techniques. In this review, some of the techniques and technologies applied for detection of especially small genomic abnormalities will be summarized with emphasis on the relative advantages and disadvantages of each, along with recent improvements. |
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Key words:
DNA variation; Molecular and cytogenetic techniques; DNA methylation |
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