1,721,023 research outputs found
Phylogenetic relationships and molecular dating of the main evolutionary events within caprini tribe inferred by mtDNA and globin genes sequence
No full textHb F-Avellino [Gγ41(C7)Phe → Leu; HBG2: c.124 T > C]: A New Hemoglobin Variant Observed In A Healthy Newborn.
No full textHere we describe HbF-Avellino [Ggamma41(C7)Phe->Leu; HBG2: c.124 T4C], a new hemoglobin (Hb)variant observed in a healthy newborn. The proband’s hemolysate was found to be mildly
unstable by the isopropanol test. The occurrence of the variant was assessed by both
chromatographic and electrophoretic methods. DNA sequencing analysis of the Ggamma gene showed a T to C transition at codon 41 (TTC4CTC) corresponding to the Phe->Leu substitution. Normal functional properties have been hypothesized.Here we describe Hb F-Avellino [Gγ41(C7)Phe → Leu; HBG2: c.124 T > C], a new hemoglobin (Hb) variant observed in a healthy newborn. The proband’s hemolysate was found to be mildly unstable by the isopropanol test. The occurrence of the variant was assessed by both chromatographic and electrophoretic methods. DNA sequencing analysis of the Gγ gene showed a T to C transition at codon 41 (TTC > CTC) corresponding to the Phe → Leu substitution. Normal functional properties have been hypothesized
The C->G transition in the alpha2-globin gene of a normal alpha alpha-chromosome is responsible for the Hb G-Philadelphia variant in Sardinians
No full textHb F-Emirates [GGAMMA59(E3)Lys->Glu] observed in a family of Sardinian ancestry and characterized by DNA sequencing
No full textBiochemical and Molecular Analysis of the Hb Lepore Boston Washington in a Syrian Homozygous Child
No full textHemoglobin (Hb) Lepore is composed of two normalαchains and twoδβfusion globins that arise from unequal crossover events between theδ- andβ-globin genes. The Hb Lepore is widespread all over the world and in many ethnic groups. It includes some of the few clinically significant Hb variants that are associated with aβ-thalassemia phenotype. Here, we describe the first occurrence of Hb Lepore Boston Washington in a Syrian individual. The patient, a 10-year-old child, shows severe anemia with a Hb level of 6.85 g/dL and typical thalassemic red cell indices. The diagnostic procedure implies hematological, biochemical, and molecular analysis, including multiplex ligation-dependent probe amplification (MLPA) assay, GAP-PCR, and DNA sequencing. This latter allowed us to define the correct structure of the hybridδβ-globin gene. The knowledge of the spectrum of mutations associated with different geographical areas is the prerequisite to set up large-scale screening programs and be able to offer genetic counseling to couples at risk.</jats:p
Comparative analysis of the mitochondrial DNA control region in mouflons from Sardinia and Corsica
No full textStructure of four newly observed alleles of the adult beta-globin gene in Mediterranean goat
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