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MUTATION | |
Codon 6 (-A); GAG(Glu)->G-G | |
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AMINO ACID REPLACEMENT | |
None | |
TYPE OF BETA-THAL | |
beta° | |
MECHANISM | |
This frameshift results in the termination of translation at codon 18 (TGA) | |
IDENTIFICATION | |
Cloning of the beta-globin gene; partial sequencing of the cloned DNA; ASO; dot-blot analysis; gene mapping with Bsu36I, DdeI, MstII | |
HEMATOLOGY IN HETEROZYGOTE(S) | |
(n=4): Hb 11.1±0.8 g/dl; MCV 67.8±4.7 fl; MCH 22.6± 1.5 pg; Hb A2 4.5±0.9%; Hb F 2.1±1.2% (from Ref. 3) | |
HEMATOLOGY IN HOMOZYGOTE(S) | |
None known | |
OCCURRENCE | |
In Italian beta-thal patients, in American Blacks; see also Tables III, IV, V, and VI | |
HAPLOTYPE | |
I; V; IX | |
FOUND IN COMBINATION WITH ABNORMAL HB(S) | |
Not reported | |
FOUND IN COMBINATION WITH BETA-THAL ALLELE(S) | |
Not reported | |
OTHER INFORMATION | |
Can also be detected with the enzyme MstII; the normal betaA gene is cut (1.1 kb; 0.2 kb fragments), that of betaS and of betaTh (codon 6, -A) is not (1.3 kb fragment) | |
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REFERENCES |
1. | |
Kazazian, H.H., Jr., Orkin, S.H., Boehm, C.D., Sexton, J.P., and Antonarakis, S.E.: Am. J. Hum. Genet., 35:1028, 1983. | |
2. | |
Gonzalez-Redondo, J.M., Stoming, T.A., Lanclos, K.D., Gu, Y.C., Kutlar, A., Kutlar, F., Nakatsuji, T., Deng, B., Han, I.S., McKie, V.C., and Huisman, T.H.J.: Blood, 72:1007, 1988. | |
3. | |
Petkov, G.H., Efremov, G.D., Efremov, D.G., Dimovski, A., Tchaicarova, P., Tchaicarov, R., Rogina, B., Agarwal, S., Kutlar, A., Kutlar, F., Reese, A.L., Stoming, T.A., and Huisman, T.H.J.: Hemoglobin, 14:25, 1990. | |