✦ LIBER ✦
Filipino β-thalassemia due to a large deletion: identification of the deletion end points and polymerase chain reaction (PCR)-based diagnosis
✍ Scribed by John S. Waye; Barry Eng; John A. Hunt; David H. K. Chui
- Publisher
- Springer
- Year
- 1994
- Tongue
- English
- Weight
- 334 KB
- Volume
- 94
- Category
- Article
- ISSN
- 0340-6717
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✦ Synopsis
The gene frequency of beta-thalassemia among Filipinos is estimated to be 0.02, although little is known about the mutations involved. Recently, an extensive beta-thalassemia deletion was reported in several unrelated individuals of Filipino descent. The deletion begins approximately 4 kb upstream of the beta-globin gene, and extends 3' beyond the beta-globin gene. In this report, we identify the 5' and 3' deletion endpoints and present a polymerase chain reaction (PCR) strategy for rapid DNA diagnosis of the Filipino beta-thalassemia deletion.