[Molecular nature of beta-thalassemia in Tajikistan: a four base pair deletion in codons 41-42 of the beta-globin gene].
Thirty tajiks, whose relatives had beta-thalassemia traits (revealed in previous investigations by determination of the HbA-2 and HbF levels) were selected to screen beta-thalassemia mutations. DNA samples from each individual were subjected to the PCR (polymerase chain reaction) to amplify the 635 bp beta-globin gene fragment. One additional band was detected in three samples after the amplified fragment underwent electrophoresis in 2% agarose gel and the EtBr was stained, and two additional ones were revealed by 6% PAAGE and staining of the EtBr. All additional bands migrated more slowly than appropriate 635 bp fragment. It is supposed that additional bands are heteroduplexes formed from the wild type chains and mutated chains carrying a deletion or insertion. The 4 bp deletion of the 41-42 (-tctt) was detected after the direct sequencing of the amplified fragments. This mutation is common among Chinese but it was not revealed in the Middle Asia populations. The mutation can be easily screened using the PCR and electrophoresis in 2% agarose gel or PAAG of the amplified beta-globin gene fragments.
Kolesnikova
T N
TN
Surin
V L
VL
Moliaka
Iu K
IuK
Luk'ianenko
A V
AV
Tagiev
A F
AF
Asanov
A Iu
AIu
Bobokhodzhaev
Z M
ZM
Solov'ev
G Ia
GIa
D001482:Base Composition / Q000235:genetics*; D001483:Base Sequence; D003062:Codon / Q000235:genetics*; D004591:Electrophoresis, Polyacrylamide Gel; D017353:Gene Deletion; D005914:Globins / Q000235:genetics*; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics; D016133:Polymerase Chain Reaction; D013620:Tajikistan / Q000208:ethnology; D017086:beta-Thalassemia / Q000208:ethnology / Q000235:genetics*
D003062:Codon; D005914:Globins
Molekuliarnaia priroda beta-talassemii v Tadzhikistane: deletsiia chetyrekh par osnovaniĭ v kodonakh 41-42 beta-globinobogo gena.