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Rapid detection of single nucleotide deletions: application to the β 6 (-A) mutation of the β-globin gene and to cystic fibrosis

✍ Scribed by Marie-Catherine Romey; Patricia Aguilar-Martinez; Jacques Demaille; Mireille Claustres

Publisher
Springer
Year
1993
Tongue
English
Weight
247 KB
Volume
92
Category
Article
ISSN
0340-6717

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✦ Synopsis

The formation of heteroduplexes from the amplified products of homologous alleles has been shown to be useful in the identification of heterozygotes carrying deletion or insertion mutations. Here, we describe an improved procedure that allows the detection of single base pair (bp) deletions on nondenaturing polyacrylamide gels. Carriers for a common Mediterranean beta-thalassemic mutation, beta6 (-A), could be easily detected by use of this method, as could carriers of a 1-bp deletion in the cystic fibrosis gene.

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