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Multilocus linkage analysis with the human argininosuccinate synthetase gene
H Northrup1, M Lathrop, S Y Lu
1Howard Hughes Medical Institute, Baylor College of Medicine, Houston, Texas 77030.
Genomics
|October 1, 1989
Summary
Researchers identified three restriction fragment length polymorphisms (RFLPs) in the argininosuccinate synthetase (ASS) gene on chromosome 9. These RFLPs are informative for genetic studies and show close linkage to the ABO blood group locus.
Area of Science:
- Human Genetics
- Molecular Biology
- Genetic Mapping
Background:
- The argininosuccinate synthetase (ASS) gene is crucial for urea cycle function.
- Previous studies lacked polymorphic markers within the ASS gene locus.
- Accurate gene mapping is essential for understanding genetic disorders and inheritance patterns.
Purpose of the Study:
- To identify and characterize restriction fragment length polymorphisms (RFLPs) within the human ASS gene.
- To establish the genetic linkage of the ASS locus to other markers on chromosome 9.
- To develop informative genetic markers for the ASS gene for future genetic studies.
Main Methods:
- Identification of three novel RFLPs within the ASS gene.
- Analysis of linkage disequilibrium between the identified RFLPs.
- Two-locus recombination estimates and multilocus lod score analysis with seven other 9q markers.
Main Results:
- Three RFLPs were successfully identified within the ASS gene locus on human chromosome 9q34-qter.
- The identified RFLPs are in linkage equilibrium and form informative haplotypes.
- The ASS locus is in close proximity to the ABO blood group locus, with a recombination fraction of 0.04.
Conclusions:
- The identified RFLPs provide the first polymorphic markers for the ASS gene.
- The ASS gene is located on chromosome 9, near the ABO blood group locus.
- These markers will facilitate genetic studies of ASS-related traits and diseases.