MUTATION | Codons 36/37 (-T); CCT·TGG(Pro-Trp)->CCT·-GG | ||
---|---|---|---|
AMINO ACID REPLACEMENT | None | ||
TYPE OF BETA-THAL | beta° | ||
MECHANISM | Frameshift resulting in a change in reading frame with a nonsense codon at codon 60 (TGA) terminating translation | ||
IDENTIFICATION | Amplification of the beta-globin gene; DNA sequencing | ||
HEMATOLOGY IN HETEROZYGOTE(S) | Not reported | ||
HEMATOLOGY IN HOMOZYGOTE(S) | Not reported | ||
OCCURRENCE | Found in three patients (Kurdish Jews) from Western Iran and in a Moslem Iranian patient | ||
HAPLOTYPE | I [+ 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. | Rund, D., Cohen, T., Filon, D., Dowling, C.E., Warren, T.C., Barak, I., Rachmilewitz, E., Kazazian, H.H., Jr., and Oppenheim, A.: Proc. Natl. Acad. Sci. USA, 88:310, 1991. | ||
2. | Kazazian, H.H., Jr.: Semin. Hematol., 27:209, 1990. |