Hb F-Emirates [Ggamma59(E3)Lys --> Glu] observed in a family of Sardinian ancestry and characterized by DNA sequencing.
Hb F-Emirates [Ggamma59(E3)Lys --> Glu] was first described in a newborn from the United Arab Emirates. Here we describe the occurrence of this variant in a family of Sardinian ancestry. Direct DNA sequencing analysis of the selectively amplified Ggamma gene shows that the AAA --> GAA transition, corresponding to a Lys --> Glu substitution, is responsible for this abnormal hemoglobin (Hb). Our observation indicates a multiple origin of the mutation. In order to facilitate future studies at the level of population genetics, the structure of the entire Ggamma gene that carries the mutation was assessed and compared with that of normal Ggamma genes.
Department of Physiological, Biochemical and Cell Sciences, Center for Biotechnology Development and Biodiversity Research, University of Sassari, Sassari, Italy.
Laura
L
Manca
Monica
M
Pirastru
Silvia M
SM
Speziga
Bruno
B
Masala
D000466:Alkadienes; D005192:Family Health; D014644:Genetic Variation; D006455:Hemoglobins, Abnormal / Q000032:analysis* / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D007558:Italy / Q000453:epidemiology; D008297:Male; D017354:Point Mutation; D017422:Sequence Analysis, DNA / Q000379:methods*
D000466:Alkadienes; D006455:Hemoglobins, Abnormal; C095958:hemoglobin F-Emirates; C025947:propadiene