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| Status |
Public on Jan 30, 2014 |
| Title |
Paternal segmental isodisomy of centromeric region on chromosome 1 as a cause of juvenile hemochromatosis |
| Organism |
Homo sapiens |
| Experiment type |
Genome variation profiling by SNP array
SNP genotyping by SNP array
|
| Summary |
Juvenile hemochromatosis type 2A in the studied patient was caused by a homozygous mutation c.196G>T (p.G66*) in hemojuvelin.
Homozygous state for this mutation evolved through interstitial segmental isodisomy encompassing the centromeric region of chromosome 1 accompanying its paternal disomy.
The disomy resulted into normal karyotype
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| Overall design |
SNP genotyping was performed on 3 samples - family trio. Affymetrix GeneChip Command Console software was used for image processing and CEL files were processed by Affymetrix GTC using the BRLMM-P-Plus algorithm and regional GC correction configuration for Copy Number/LOH analysis. The HapMap270 file supplied by Affymetrix was used as the reference.
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| Contributor(s) |
Neřoldová M, Stranecky V, Jirsa M |
| Citation(s) |
24635876 |
| |
| Submission date |
Aug 29, 2013 |
| Last update date |
Nov 27, 2018 |
| Contact name |
Viktor Stranecky |
| Organization name |
Charles University
|
| Department |
1st Faculty of Medicine
|
| Lab |
Institute of inherited metabolic disorders
|
| Street address |
Ke Karlovu 2
|
| City |
Prague |
| ZIP/Postal code |
128 00 |
| Country |
Czech Republic |
| |
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| Platforms (1) |
| GPL6801 |
[GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array |
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| Samples (3) |
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| Relations |
| BioProject |
PRJNA217496 |
