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FISH for Pre-implantation Genetic Diagnosis
Published on: February 23, 2011
POD-FISH: a new technique for parental origin determination based on copy number variation polymorphism
Anja Weise1, Madeleine Gross, Sophie Hinreiner
1Institut für Humangenetik und Anthropologie, University of Jena, Jena, Germany. aweise@mti.uni-jena.de
Methods in Molecular Biology (Clifton, N.J.)
|September 3, 2010
Summary
Copy number variation (CNV) polymorphisms are common in the human genome. An improved fluorescence in situ hybridization (POD-FISH) method uses high-frequency CNVs to better distinguish homologous chromosomes.
Area of Science:
- Genetics
- Genomics
- Molecular Biology
Background:
- Copy number variation (CNV) is a significant source of human genetic diversity, affecting approximately 12% of the genome.
- CNVs can exhibit differences not only between individuals but also between homologous chromosomes within an individual.
- Accurate discrimination of homologous chromosomes is crucial for various genetic studies.
Purpose of the Study:
- To present an enhanced protocol for parental origin determination using copy number variation-based fluorescence in situ hybridization (POD-FISH).
- To improve the discrimination of homologous chromosomes by leveraging high-frequency CNV markers.
Main Methods:
- Development of a refined POD-FISH assay utilizing sets of CNV-specific probes.
- Exploitation of high-frequency CNV polymorphisms for enhanced chromosomal differentiation.
- Application of the assay for parental origin determination.
Main Results:
- The improved POD-FISH protocol demonstrates superior ability to differentiate homologous chromosomes.
- High-frequency CNV markers provide robust signals for cytological assays.
- The method facilitates accurate parental origin determination.
Conclusions:
- The enhanced POD-FISH protocol offers a more precise tool for analyzing copy number variations and determining parental origins.
- This advancement in cytological assay design contributes to a deeper understanding of human genome variation and inheritance patterns.
Related Concept Videos
02:26Comparing Copy Number Variations and SNPs
Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
02:07FISH - Fluorescent In-situ Hybridization
Fluorescence in situ hybridization, or FISH, was developed in the early 1980s and has quickly become one of the most widely used techniques in cytogenetics. Labeled probes are used to bind complementary DNA or RNA sequences on a chromosome or in a region within a cell. Earlier, the probes could only be obtained by cloning or reverse transcription of a DNA template. Currently, the probe oligonucleotides can be synthesized synthetically. Additionally, with the advancement of optical techniques,...