MUTATION | Codon 15 (-T); TGG(Trp)->-GG | ||
---|---|---|---|
AMINO ACID REPLACEMENT | None | ||
TYPE OF BETA-THAL | beta° | ||
MECHANISM | The frameshift results in termination of translation at codon 18 (TGA) | ||
IDENTIFICATION | Amplification of the beta-globin gene; cloning; DNA sequencing; dot-blot hybridization with allele specific probes; ASO | ||
HEMATOLOGY IN HETEROZYGOTE(S) | Not reported | ||
HEMATOLOGY IN HOMOZYGOTE(S) | None observed | ||
OCCURRENCE | In a Malay family | ||
HAPLOTYPE | I [+ O - - - - + +] | ||
FOUND IN COMBINATION WITH ABNORMAL HB(S) | None reported | ||
FOUND IN COMBINATION WITH BETA-THAL ALLELE(S) | With the AATAAA->AACAAA poly A mutation; the combination causes thalassemia major; hematological data are not reported | ||
OTHER INFORMATION | The deletion of T creates a restriction site for EcoRI; this change can be used for its detection |
REFERENCES | |||
1. | Fucharoen, S., Fucharoen, G., Ata, K., Aziz, S., Hashim, S., Hassan, K., and Fukumaki, Y.: Acta Haematol., 84:82, 1990. |