Identification of the multiple beta-thalassemia mutations by denaturing gradient gel electrophoresis.
Open Access
- 1 February 1990
- journal article
- research article
- Published by American Society for Clinical Investigation in Journal of Clinical Investigation
- Vol. 85 (2) , 550-553
- https://doi.org/10.1172/jci114471
Abstract
We used denaturing gradient gel electrophoresis to detect the beta-thalassemia mutations in the Chinese population. By amplifying the beta-globin gene in four separate fragments and electrophoresing the amplified DNA in two gels, we were able to distinguish all the 12 known mutations on the basis of the mobility of the homoduplexes and heteroduplexes. We conclude that denaturing gradient gel electrophoresis offers a nonradioactive means of detecting multiple mutations in genetic disorders.This publication has 10 references indexed in Scilit:
- RAPID PRENATAL-DIAGNOSIS OF BETA-THALASSEMIA USING DNA AMPLIFICATION AND NONRADIOACTIVE PROBES1989
- Attachment of a 40-base-pair G + C-rich sequence (GC-clamp) to genomic DNA fragments by the polymerase chain reaction results in improved detection of single-base changes.Proceedings of the National Academy of Sciences, 1989
- Molecular basis and prenatal diagnosis of beta-thalassemia.1988
- Reactivity of cytosine and thymine in single-base-pair mismatches with hydroxylamine and osmium tetroxide and its application to the study of mutations.Proceedings of the National Academy of Sciences, 1988
- Enzymatic Amplification of β-Globin Genomic Sequences and Restriction Site Analysis for Diagnosis of Sickle Cell AnemiaScience, 1985
- Detection of Single Base Substitutions by Ribonuclease Cleavage at Mismatches in RNA:DNA DuplexesScience, 1985
- Nearly all single base substitutions in DNA fragments joined to a GC-clamp can be detected by denaturing gradient gel electrophoresisNucleic Acids Research, 1985
- DNA fragments differing by single base-pair substitutions are separated in denaturing gradient gels: correspondence with melting theory.Proceedings of the National Academy of Sciences, 1983
- Detection of sickle cell beta S-globin allele by hybridization with synthetic oligonucleotides.Proceedings of the National Academy of Sciences, 1983
- A Sensitive New Prenatal Test for Sickle-Cell AnemiaNew England Journal of Medicine, 1982