MOLECULAR INVESTIGATION OF THALASSEMIA .4. CLONING OF BETA-GLOBIN GENE OF BETA-THALASSEMIC PATIENT FROM AZERBAIJAN AND DETERMINATION OF A POINT MUTATION IN MINOR INTRON
- 1 January 1987
- journal article
- research article
- Vol. 23 (2) , 228-238
Abstract
On the basis of DNA from a .beta.-thalassemic patient, human gene library has been obtained using bacteriophage .lambda.EMBL4 as a vector. The recombinants contain human DNA insertions of 15 to 20 kb. The .lambda.Al.beta.1 clone has been isolated by the method of hybridization of phage plaque replicas to the HhaI fragment of JW102 plasmid containing human .beta.-globin cDNA. Restriction mapping revealed the presence of a 22 kb human DNA fragment comprising a portion of the .beta.-globin gene system. Subcloned fragments of .beta.-globin gene (within the pUC19 plasmid or phage M13mp10) were sequenced using the Maxam and Gilbert method as well as that of Sanger. 2150 nucleotides in total were analysed. We have detected the point substitution G .fwdarw. A in the 110 nucleotide of minor intron, leading to the formation of an additional splicing site.This publication has 13 references indexed in Scilit:
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