Locus assignment of human alpha-globin structural mutants by selective enzymatic amplification of alpha 1 and alpha 2-globin cDNAs

Autor:	A, Mamalaki, M, Horanyi, J, Szelenyi, N K, Moschonas
Rok vydání:	1990
Předmět:	Base Sequence Genes DNA Mutational Analysis Immunoblotting Molecular Sequence Data Mutation Gene Amplification Chromosome Mapping Humans Nucleic Acid Hybridization DNA Oligonucleotide Probes Globins
Zdroj:	Human genetics. 85(5)
ISSN:	0340-6717
Popis:	We have used the powerful methodology of DNA enzymatic amplification in order to assign human alpha-globin structural mutants to one of the two highly homologous alpha-globin genes. Selectively amplified alpha 1 and alpha 2-globin cDNAs were dot-blotted and further hybridized to synthetic oligonucleotides encompassing either the normal or the mutated sequences. The generated signals corresponded specifically to one of the two alpha-globin genes. Using this approach the alpha-globin structural mutants J-Buda and G-Pest were found to be encoded by the alpha 2 and the alpha 1-globin genes, respectively. Furthermore, the exact nucleotide changes were determined. We propose this technique to serve as a simple and definitive method for assigning alpha-globin structural mutants.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=pmid________::2869bffc785ecaf614e2d03184532b92 https://pubmed.ncbi.nlm.nih.gov/2227935 Zobrazit plný text záznamu Full text from SpringerLink