MUTATION | IVS-I-1 (G->T); AG^GTTGGT->AGTTTGGT | ||
---|---|---|---|
AMINO ACID REPLACEMENT | None | ||
TYPE OF BETA-THAL | beta° | ||
MECHANISM | This G->T change in the GT dinucleotide, which is required for normal splicing; abolishes this process and no normal mRNA is formed | ||
IDENTIFICATION | Cloning of the beta-globin gene; DNA sequencing | ||
HEMATOLOGY IN HETEROZYGOTE(S) | Not reported | ||
HEMATOLOGY IN HOMOZYGOTE(S) | Not reported | ||
OCCURRENCE | Asian Indians; see Tables XI, XII, and XIII | ||
HAPLOTYPE | IX [- 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.: EMBO J., 3:593, 1984. |