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| Status |
Public on May 22, 2007 |
| Title |
The evolution of β-thalassemia major from minor is associated with paternal uniparental isodisomy of chromosome 11p15 |
| Organism |
Homo sapiens |
| Experiment type |
Genome variation profiling by SNP array
SNP genotyping by SNP array
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| Summary |
β-thalassemia major can be caused by homozygous mutations of the HBB gene, most of the cases are inherited from parents who both have β-thalassemia minor. Herein, we show that a mosaic paternal uniparental isodisomy of chromosome 11p14.3-15.5 is associated with β-thalassemia major in a patient with β-thalassemia minor-that evolved to β-thalassemia major. From this case, we suggest that analysis of HBB gene for non-hematopoietic tissues should be performed in late-onset β-thalassemia major patients.
Keywords: genomic
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| Overall design |
This study is to evaluate the cause of delay-onset β-thalassemia major in our patient. Patients peripheral blood, hair follicle, and oral mucosa, and her parents pripheral blood samples were analyzed.
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| Citation missing |
Has this study been published? Please login to update or notify GEO. |
| Submission date |
May 18, 2007 |
| Last update date |
Dec 22, 2017 |
| Contact name |
Ta-Chih Liu |
| E-mail(s) |
d730093@cc.kmu.edu.tw
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| Phone |
886-918335251
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| Fax |
886-7-3162429
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| Organization name |
Kaohsiung Medical University Hospital
|
| Department |
Department of Internal Medicine
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| Lab |
Genetic Diagnostic Lab
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| Street address |
100, Shih-Chuan 1st Rd.
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| City |
Kaohsiung |
| ZIP/Postal code |
80708 |
| Country |
Taiwan |
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| Platforms (2) |
| GPL2004 |
[Mapping50K_Hind240] Affymetrix Human Mapping 50K Hind240 SNP Array |
| GPL2005 |
[Mapping50K_Xba240] Affymetrix Human Mapping 50K Xba240 SNP Array |
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| Samples (10)
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| Relations |
| BioProject |
PRJNA99979 |
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