MUTATION | Codon 16 (-C); GGC(Gly)->GG- | ||
---|---|---|---|
AMINO ACID REPLACEMENT | None | ||
TYPE OF BETA-THAL | beta° | ||
MECHANISM | This frameshift results in termination of translation at codon 18 (TGA) | ||
IDENTIFICATION | Cloning of the beta-globin gene; DNA sequencing; hybridization with allele specific probes; ASO | ||
HEMATOLOGY IN HETEROZYGOTE(S) | Not reported | ||
HEMATOLOGY IN HOMOZYGOTE(S) | Not reported | ||
OCCURRENCE | Asian Indians | ||
HAPLOTYPE | V [+ 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. | Kazazian, H.H., Jr., Orkin, S.H., Antonarakis, S.E., Sexton, J.P., Boehm, C.D., Goff, S.C., and Waber, P.G.: The EMBO J., 3:593, 1984. |