A rapid and simple electrophoretic method for the detection of mutations involving small insertion or deletion: application to β-thalassemia View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

1991-10

AUTHORS

Shi-Ping Cai, Barry Eng, Yuet Wai Kan, David H. K. Chui

ABSTRACT

The 1.8-kb beta-globin gene fragments of DNAs from individuals heterozygous for nine different beta-thalassemia mutations involving 1, 2, 3, 4, or 25 basepair (bp) insertions or deletions were amplified by the polymerase chain reaction (PCR). The PCR products were subjected to electrophoresis on aqueous 8% polyacrylamide gel. In each heterozygote with either a 2 to 25 bp deletion, but not with a 1 bp insertion, two slower migrating bands representing heteroduplexes in addition to the 1.8-kb homoduplex band were seen. The electrophoretic positions of these slower migrating bands were characteristic of each mutation studied. By co-amplification with known normal DNA, it was also possible to distinguish DNAs from normal individuals and from individuals who are homozygous for the small insertion/deletion mutations. These studies demonstrate that the heteroduplex formation generated in PCR can be applied as a simple method in the diagnosis of insertion/deletion mutations involving 2 to 25 bp in beta-thalassemias as well as in other genetic disorders. More... »

PAGES

728-730

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/bf00201734

DOI

http://dx.doi.org/10.1007/bf00201734

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1024658363

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/1937477


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