[Molecular nature of deletion in beta 0-thalassemia, established using a method of amplification of genomic DNA in vitro].
A mutation causing beta 0-thalassaemia in Azerbaijanian population is shown, by the polymerase chain reaction followed by Maxam-Gilbert sequencing, to be the deletion of dinucleotide AA from the eight codone of beta-globin gene (the mutation is known to exist also in Turkey and Lebanon). Two other mutations have also been found in beta-globin gene of the same DNA, one of which (transversion C----G at position 16 of intron 2) eliminates the polymorphic AvaII-site and is associated with thalassaemia, and other is transition C----T in the third position of the second beta-globin codon.
Shvarts
E I
EI
Gol'tsov
A A
AA
Kaboev
O K
OK
Bakhlanova
I N
IN
Alekseev
A N
AN
D002872:Chromosome Deletion; D004247:DNA / Q000235:genetics*; D004252:DNA Mutational Analysis; D004262:DNA Restriction Enzymes; D015252:Deoxyribonucleases, Type II Site-Specific; D004591:Electrophoresis, Polyacrylamide Gel; D005260:Female; D005784:Gene Amplification; D005914:Globins / Q000235:genetics*; D006801:Humans; D008297:Male; D010375:Pedigree; D015183:Restriction Mapping; D013789:Thalassemia / Q000235:genetics*
D005914:Globins; D004247:DNA; D004262:DNA Restriction Enzymes; D015252:Deoxyribonucleases, Type II Site-Specific; C038308:GGWCC-specific type II deoxyribonucleases
Molekuliarnaia priroda deletsii pri beta 0-talassemii, ustablennaia s pomoshch'iu metoda amplifikatsii genomnoĭ DNK in vitro.