MUTATION | Codons 71/72 (+A); TTT·AGT(Phe·Ser)->TTT·A·AGT | ||
---|---|---|---|
AMINO ACID REPLACEMENT | None | ||
TYPE OF BETA-THAL | |||
MECHANISM | Introduction of A between codons 71 and 72 changes the reading frame and terminates translation at the new codon 73 (TGA) | ||
IDENTIFICATION | Cloning and amplification of the beta-globin gene; DNA se-quencing; dot-blot analysis with allele specific probes; ASO | ||
HEMATOLOGY IN HETEROZYGOTE(S) | Not reported | ||
HEMATOLOGY IN HOMOZYGOTE(S) | Not reported | ||
OCCURRENCE | In Chinese and other East Asian populations, usually at low frequencies (see Tables XII and XIII) | ||
HAPLOTYPE | II [+ O - - - - + - +] | ||
FOUND IN COMBINATION WITH ABNORMAL HB(S) | Not reported | ||
FOUND IN COMBINATION WITH BETA-THAL ALLELE(S) | Not reported | ||
OTHER INFORMATION | None |
REFERENCES | |||
1. | Cheng, T-C., Orkin, S.H., Antonarakis, S.E., Potter, M.J., Sexton, J.P., Markham, A.F., Giardina, P.J.V., Li, A., and Kazazian, H.H., Jr.: Proc. Natl. Acad. Sci. USA, 81:2821, 1984. |