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Recurrent t(11;22) breakpoint mapping by chromosome flow sorting and spot-blot hybridization
O Delattre1, M Grunwald, A Bernard
1Section de Biologie, Institut Curie, Paris, France.
Human Genetics
|February 1, 1988
Summary
The recurrent t(11;22) translocation involves specific chromosome bands. This study clarifies the breakpoint location on chromosome 22, showing it is not near the immunoglobulin lambda gene cluster.
Area of Science:
- Cytogenetics
- Molecular Biology
- Human Genetics
Background:
- The t(11;22) translocation is a frequent chromosomal anomaly in humans.
- Previous studies suggested involvement of the C lambda locus in chromosome 22 breakpoints, but results were conflicting.
Purpose of the Study:
- To resolve discrepancies regarding the t(11;22) translocation breakpoint.
- To precisely map the chromosome 22 breakpoint using an alternative method.
Main Methods:
- Utilized bivariate flow sorting to isolate specific chromosomes.
- Employed direct spot-blot hybridization with gene-specific DNA probes (Alu, V lambda, ets) to map breakpoints.
Main Results:
- Confirmed translocation of C lambda and V lambda genes to the der(11) chromosome in the analyzed patient.
- Demonstrated that the chromosome 22 breakpoint is located proximally to the C lambda region, not within it.
Conclusions:
- The study unambiguously maps the chromosome 22 breakpoint in the t(11;22) translocation.
- The breakpoint is confirmed to be outside the immediate vicinity of the C lambda locus, resolving previous experimental conflicts.