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A guide to fragile sites on human chromosomes
F Hecht1, K H Ramesh, D H Lockwood
1Southwest Biomedical Research Institute, Scottsdale, Arizona 85251.
Cancer Genetics and Cytogenetics
|January 1, 1990
Summary
This guide details 107 human fragile sites identified in 1988, including their locations and induction methods. Fragile sites show nonrandom genomic distribution, with notable absences on chromosomes 3 and 21.
Area of Science:
- Human Genetics
- Genomics
- Cytogenetics
Background:
- Fragile sites are specific regions on chromosomes prone to breakage.
- Understanding fragile sites is crucial for genetic disease research.
- The International Workshop on Human Gene Mapping (HGM) provides standardized nomenclature and data.
Purpose of the Study:
- To catalog and describe all known human fragile sites as of HGM 9.5.
- To provide detailed information on the characteristics of these fragile sites.
- To analyze the genomic distribution patterns of fragile sites.
Main Methods:
- Compilation of data from the HGM 9.5 workshop.
- Recording chromosome band locations for each fragile site.
- Documenting gene symbols, induction methods (e.g., aphidicolin), and status.
Main Results:
- A comprehensive list of 107 fragile sites is presented.
- Detailed information including chromosomal location, gene symbols, and induction modes is provided.
- Fragile sites exhibit nonrandom distribution across the human genome.
Conclusions:
- The study provides a foundational reference for human fragile sites.
- Nonrandom distribution suggests underlying biological mechanisms influencing fragile site formation.
- Specific chromosomes, like 3 and 21, have unique fragile site profiles, with chromosome 21 lacking known fragile sites.