MUTATION | Codon 1 (-G); GTG(Val)->-TG | ||
---|---|---|---|
AMINO ACID REPLACEMENT | None observed | ||
TYPE OF BETA-THAL | beta° | ||
MECHANISM | This frameshift results in the termination of translation at codon 3 (TGA) | ||
IDENTIFICATION | Amplification of the beta-globin gene; DNA sequencing | ||
HEMATOLOGY IN HETEROZYGOTE(S) | Not presented | ||
HEMATOLOGY IN HOMOZYGOTE(S) | None | ||
OCCURRENCE | Found in a few Italian families | ||
HAPLOTYPE | Not determined | ||
FOUND IN COMBINATION WITH ABNORMAL HB(S) | None | ||
FOUND IN COMBINATION WITH BETA-THAL ALLELE(S) | None | ||
OTHER INFORMATION | None |
REFERENCES | |||
1. | Rosatelli, M.C., Dozy, A., Faà, V., Meloni, A., Sardu, R., Saba, L., Kan, Y.W., and Cao, A.: Am. J. Hum. Genet., 50:422, 1992. |