Article
The spectrum of beta-thalassemia mutations in Taiwan: identification of a novel frameshift mutation.
American journal of human genetics - 1 Apr 1991
Lin L I, Lin K S, Lin K H, Chang H C
Abstract excerpt
Seventy-four beta-thalassemia genes from 37 unrelated beta-thalassemia-major patients were systematically characterized by using PCR, dot-blot hybridization, and direct sequencing of amplified genomic DNA. We found that six mutations--namely, II-654, 41/42, -28, 17 beta, -29, and 27/28--were prevalent, accounting, respectively, for 45.9%, 28.4%, 10.8%, 10.8%, 1.4%, and 2.7% of studied patients. The 27/28 mutation...
Topics
- Alleles
- Base Sequence
- DNA
- Frameshift Mutation
- Globins
- Humans
- Molecular Sequence Data
- Prenatal Diagnosis
- TATA Box
- Taiwan
- Thalassemia