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Linkage maps of human chromosomes
R White1, J M Lalouel, M Leppert
1Howard Hughes Medical Institute, University of Utah School of Medicine, Salt Lake City 84132.
Genome
|January 1, 1989
Summary
Identifying human gene locations by linking DNA markers to inherited diseases is crucial for understanding disease origins. This approach uses genetic mapping in families to pinpoint genes responsible for Mendelian disorders.
Area of Science:
- Genetics
- Molecular Biology
- Human Genome Research
Background:
- Identifying the chromosomal location of human genes is essential for understanding disease mechanisms.
- Phenotypic and Mendelian inheritance patterns provide initial clues to gene location.
- Advances in DNA marker technology have made genome-wide linkage studies feasible.
Purpose of the Study:
- To outline the strategy for identifying the chromosomal location of disease-causing genes.
- To detail the process from initial linkage analysis to gene isolation.
- To highlight the utility of genetic mapping in disease gene discovery.
Main Methods:
- Construction of linkage maps using three-generation families and polymorphic DNA markers.
- Genotyping and sophisticated computer analysis of genetic data.
- Development of high-resolution maps using cosmid libraries to narrow down gene location.
- Application of molecular biology techniques for gene isolation and cloning.
Main Results:
- Linkage studies enable genome-wide accessibility for identifying genes linked to genetic defects.
- High-resolution mapping refines the search area for target genes.
- The strategy has been successfully applied, for instance, in studying familial adenomatous polyposis.
Conclusions:
- Genetic mapping is a powerful tool for discovering the molecular basis of inherited diseases.
- The described strategy effectively narrows the search for disease genes to manageable physical distances.
- This approach facilitates the isolation and cloning of specific genes responsible for human disorders.