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A polymorphic complex dinucleotide repeat at the telomeric D8S7 locus.
1Department of Medical Genetics, University of British Columbia, Vancouver, Canada.
Human Heredity
|January 1, 1992
Summary
Researchers identified a new two-allele polymorphism on chromosome 8 using microsatellite analysis. This genetic marker is linked to an existing insertion-deletion polymorphism, advancing genetic mapping studies.
Area of Science:
- Human Genetics
- Molecular Biology
- Genomic Mapping
Background:
- Cosmids containing sequences from chromosome 8 were isolated using hybridization probes.
- Screening identified microsatellite repeat sequences within these cosmids.
Purpose of the Study:
- To characterize a novel genetic marker on chromosome 8.
- To investigate potential linkage disequilibrium with known polymorphisms.
Main Methods:
- Isolation of cosmids from a flow-sorted chromosome 8 library.
- Screening for GT microsatellite sequences and sequencing of positive fragments.
- Polymerase chain reaction (PCR) amplification and typing of polymorphisms in a family panel.
Main Results:
- A complex dinucleotide repeat was identified within a 900-bp fragment.
- A two-allele polymorphism was detected using flanking oligonucleotide primers.
- This new polymorphism is in linkage disequilibrium with a known insertion-deletion polymorphism at the D8S7 locus.
Conclusions:
- A novel microsatellite polymorphism has been characterized on chromosome 8.
- The identified polymorphism provides a valuable tool for genetic mapping and linkage analysis.
- Linkage disequilibrium with a known marker refines the genetic map of chromosome 8.