| Autor: |
Wilson, J. B., Webber, B. B., Kutlar, A., Reese, A. L., McKie, V. C., Lutcher, C. L., Felice, A. E., Huisman, T. H. J. |
| Zdroj: |
Hemoglobin; 1989, Vol. 13 Issue: 6 p557-566, 10p |
| Abstrakt: |
Structural analysis o f the α chain of the hemoglobin from a Caucasian female with a mild hemolytic anemia showed the presence of a variant with a Val→Met substitution at position α62. The valine at this position forms one o f the contacts with heme and its replacement by methionine will likely decrease heme binding and cause adistortion of the heme crevice and a decreased stability of the abnormal protein. Dot-blot analysis of amplified DNA with 32P-labeled synthetic oligonucleotide probes confirmed the suspected G→A mutation in the first position of codon 62, and also located the mutation in the α2-globin gene. The mutation was found in the proposita and one of her daughters but was most probably absent in her parents. |
| Databáze: |
Supplemental Index |
| Externí odkaz: |
|
