δ-Thalassemic phenotype due to two 'novel' δ-globin gene mutations: CD11[GTC → GGC (A8)-HbA2-pylos] and CD 85 [TTT → TCT (F1)-HbA2-etolia]

Autor: Elisavet Papapanagiotou, Olga Drakoulakou, Manoussos N. Papadakis, Afrodite Loutradi-Anagnostou
Rok vydání: 1997
Předmět:
Zdroj: Human Mutation. 9:344-347
ISSN: 1098-1004
1059-7794
DOI: 10.1002/(sici)1098-1004(1997)9:4<344::aid-humu7>3.0.co;2-5
Popis: δ-Thalassemia reduces the expected HbA2 percentage, altering the normal as well as the β-thalassemia trait phenotype. An attempt to elucidate the molecular basis of δ-thalassemia in the Greek population, revealed two cases with unknown molecular defects that presented low levels of HbA2 (about 1.5%). DNA sequence analysis of δ-globin gene identified two “novel” mutations in the coding regions of the gene; the cd11 (GTCGGC) resulting in the substitution of valine for glycine (:HbA2-Pylos) and the cd85 (TTTTCT) resulting in the substitution of phenylalanine for serine (:HbA2-Etolia). Because these mutations are localized at the helical positions A8 and F1 of the HbA2 respectively, they potentially cause molecular instability of the tetramer, thus leading to reduced HbA2 percentage. Hum Mutat 9:344–347, 1997. © 1997 Wiley-Liss, Inc.
Databáze: OpenAIRE
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