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| Status |
Public on May 26, 2006 |
| Title |
Expression data from whole blood |
| Organism |
Homo sapiens |
| Experiment type |
Expression profiling by array
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| Summary |
While identification of genes mutated in high penetrance tumor predisposition syndromes has been a success story, much less progress has been made in characterizing the genetic basis of low penetrance tumor susceptibility. Combining recently introduced chip-based technologies with traditional genealogy work we have identified inactivating germline mutations in patients with pituitary adenoma predisposition (PAP).
The experiment consisted of a collection of blood samples from identified families where PAP was observed and analysis of gene expression data used together with SNP genoptyping and linkage analysis. The findings were further studied using direct screening and other supporting methods.
Keywords: affected and obligatory carriers vs controls
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| Overall design |
To identify the PAP locus whole genome SNP genotyping and linkage analysis was combined with gene expression profiling from 16 individuals (9 affected/obligatory carriers: A2, A6, A8, A14, A16, A18, A20, A21, A22, and 7 controls). Statistical analysis was performed on probe sets mapped to the linked region.
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| |
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| Contributor(s) |
Kokko A, Vahteristo P, Launonen V, Karhu A, Aaltonen LA |
| Citation(s) |
16728643 |
| Submission date |
Mar 16, 2006 |
| Last update date |
Mar 25, 2019 |
| Contact name |
Antti Kokko |
| Organization name |
University of Helsinki
|
| Department |
Dept of Medical Genetics
|
| Lab |
Tumorigenesis group
|
| Street address |
POBOX 63 (Haartmaninkatu 8)
|
| City |
Helsinki |
| ZIP/Postal code |
00014 University of Helsinki |
| Country |
Finland |
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| Platforms (1) |
| GPL570 |
[HG-U133_Plus_2] Affymetrix Human Genome U133 Plus 2.0 Array |
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| Samples (16)
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| Relations |
| BioProject |
PRJNA94363 |
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