RAPID DETECTION OF SINGLE NUCLEOTIDE DELETIONS - APPLICATION TO THE BETA-6(-A) MUTATION OF THE BETA-GLOBIN GENE AND TO CYSTIC-FIBROSIS

The formation of heteroduplexes from the amplified products of homolog ous alleles has been shown to be useful in the identification of heter ozygotes carrying deletion or insertion mutations. Here, we describe a n im proved procedure that allows the detection of single base pair (b p) deletions on nondenaturing polyacrylamide gels. Carriers for a comm on Mediterranean P-thalassemic mutation, beta degrees 6 (-A), could be easily detected by use of this method, as could carriers of a 1-bp de letion in the cystic fibrosis gene.