Article
Detection of beta-globin gene mutations by polymerase chain reaction.
Proceedings of the National Science Council, Republic of China. Part B, Life sciences - 1 Apr 1991
Lee H H, Chang J G, Lee L S, Lin S T, Ko T M, Choo K B
Abstract excerpt
The polymerase chain reaction and oligonucleotide probe hybridization technique were applied to the detection of two common mutations of the beta-globin gene found in Chinese, namely the 4-base pair deletion at the 41-42 codons and the C to T substitution at nucleotide 654 of IVS-2. The accuracy of the method was established using beta-thalassemia cases with known mutations or haplotypes of the restriction...
Topics
- Base Sequence
- Codon
- DNA
- Globins
- Humans
- Molecular Sequence Data
- Mutation
- Nucleic Acid Hybridization
- Oligonucleotide Probes
- Pedigree
- Polymerase Chain Reaction