MUTATION | -30 (T->C) | ||
---|---|---|---|
-30 -25 | |||
AMINO ACID REPLACEMENT | None known | ||
TYPE OF BETA-THAL | ? | ||
MECHANISM | Not reported; probably decreased transcription of the beta-globin gene due to reduced binding of transcriptional factors | ||
IDENTIFICATION | Amplification of the beta-globin gene; DNA sequencing; dot-blot analysis with allele specific probes (ASO) | ||
HEMATOLOGY IN HETEROZYGOTE(S) | The father was a heterozygote; no additional data reported | ||
HEMATOLOGY IN HOMOZYGOTE(S) | Not observed | ||
OCCURRENCE | In a Chinese family | ||
HAPLOTYPE | Not done | ||
FOUND IN COMBINATION WITH ABNORMAL HB(S) | None | ||
FOUND IN COMBINATION WITH BETA-THAL ALLELE(S) | The proband was a compound heterozygote for this mutation and IVS-II-654 (C->T) | ||
OTHER INFORMATION | None |
REFERENCES | |||
1. | Cai, S-P., Zhang, J-Z., Doherty, M., and Kan, Y.W.: Am. J. Hum. Genet., 45:112, 1989. |