| Autor: |
Manca, L., Cherchi, L., De Rosa, M. C., Giardina, B., Masala, B. |
| Zdroj: |
Hemoglobin; January 2000, Vol. 24 Issue: 1 p37-44, 8p |
| Abstrakt: |
Hb F-Calabria [Gγ118(GH1)Phe→Leu] is a new fetal hemoglobin variant that was found during routine screening for abnormal hemoglobins in a newborn of Calabrian (Southern Italy) ancestry. the variant chain was identified (acid urea gel elect rophoresis of dissociated globin chains in the presence of Triton X-100, and by reversed phase high performance liquid chromatography) as a slightly hydrophilic Gγ chain. Sequencing of the polymerase chain reaction-amplified exon 3 of the Gγ-globin gene demonstrated the TTC→CTC mutation at codon 118 leading to the Phe→Leu conservative substitution at position GH1. A molecular modeling study supports that the variant might not have clinical implications. This is the 40th example of a Gγ chain variant. |
| Databáze: |
Supplemental Index |
| Externí odkaz: |
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