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Isolation and characterization of 19 dinucleotide repeat polymorphisms on chromosome 3p
M H Jones1, K Yamakawa, Y Nakamura
1Department of Biochemistry, Cancer Institute, Tokyo, Japan.
Human Molecular Genetics
|May 1, 1992
Summary
Researchers identified dinucleotide repeat sequences on chromosome 3p, finding 58% of cosmids contained these repeats. These polymorphic markers are valuable for mapping genes linked to cancer and hereditary disorders like von Hippel-Lindau disease.
Area of Science:
- Genetics
- Molecular Biology
- Genomic Mapping
Background:
- Chromosome 3p harbors genes critical for human health, including tumor suppressor genes and those implicated in hereditary disorders.
- Dinucleotide repeat sequences are common in the human genome and can serve as genetic markers.
- High-resolution mapping of 3p is essential for understanding gene function and disease association.
Purpose of the Study:
- To screen for and characterize (dC-dA)n.(dG-dT)n dinucleotide repeat sequences on chromosome 3p.
- To identify polymorphic dinucleotide repeat loci for genetic mapping.
- To assess the utility of these polymorphisms as markers for genes on 3p.
Main Methods:
- Cosmid screening using colony hybridization with a (dG-dT)10 oligonucleotide probe.
- Subcloning of positive cosmids to determine flanking sequences of dinucleotide repeats.
- Polymerase Chain Reaction (PCR) to examine polymorphisms at identified loci.
Main Results:
- 58% (89 of 155) of screened cosmids contained (dC-dA)n.(dG-dT)n repeats.
- 29 cosmids were subcloned, and flanking sequences were determined.
- 19 out of 24 loci examined showed polymorphisms, with heterozygosities ranging from 3% to 86%.
Conclusions:
- Dinucleotide repeat polymorphisms on chromosome 3p have been identified.
- These polymorphisms represent valuable tools for high-resolution genetic mapping of 3p.
- The identified markers can aid in mapping genes associated with cancers and hereditary diseases, such as von Hippel-Lindau disease.