MUTATION | Codon 37 (TGG->TAG) | ||
---|---|---|---|
AMINO ACID REPLACEMENT | Trp->stop codon | ||
TYPE OF DELTA-THAL | delta° | ||
MECHANISM | No translation of mRNA | ||
IDENTIFICATION | Amplification of the delta-globin gene; DNA sequencing | ||
% HB A2 IN HETEROZYGOTE(S) | 1.3; 1.5; 1.6% (measured by chromatography) | ||
% HB A2 IN HOMOZYGOTE(S) | Not observed | ||
OCCURRENCE | In a Sardinian family | ||
HAPLOTYPE | Not reported | ||
FOUND IN COMBINATION WITH ABNORMAL HB(S) | None | ||
FOUND IN COMBINATION WITH DELTA-THAL ALLELE(S) | None | ||
OTHER INFORMATION | None |
REFERENCES | |||
1. | Gasperini, D., Perseu, L., Cossu, P., Podda, A., Cao, A., and Galanello, R.: Hum. Mutat., 3:71, 1994 |