The mutation associated with Hb Peterborough [beta111(G13)Val--Phe] originated from Southern Italy
| Autor: | Anna Maria Salzano, Leonilde Pagano, R. Libertino, Virginia Carbone, C. De Rosa, D. Pagnini, Piero Pucci, G. Papa |
|---|---|
| Rok vydání: | 2000 |
| Předmět: |
Proband
Adult Electrophoresis Mild anemia Spectrometry Mass Electrospray Ionization Hemoglobins Abnormal Clinical Biochemistry DNA Mutational Analysis Molecular Sequence Data medicine.disease_cause law.invention law Hb Peterborough medicine Humans Amino Acid Sequence Amino acid replacement Genetics (clinical) Polymerase chain reaction Chromatography High Pressure Liquid Genetics Family Health Mutation Hematologic Tests Low oxygen Chemistry Biochemistry (medical) Genetic Variation Hematology Pedigree Dna mutation Amino Acid Substitution Haplotypes Italy Female |
| Zdroj: | Hemoglobin. 24(3) |
| ISSN: | 0363-0269 |
| Popis: | Hb Peterborough [beta111(G13)Val--Phe], an unstable hemoglobin variant with low oxygen affinity, was first described in two patients of Italian origin. This paper reports the first observation of this variant in Campania, Southern Italy, in two unrelated patients suffering from mild anemia. The variant was separated from Hb A by cation exchange chromatography on a high performance liquid chromatographic system with an automated procedure that might be useful for diagnostic purposes. The amino acid replacement, Val-Phe at [beta111, was assessed by tandem electrospray mass spectrometry analysis, and the corresponding DNA mutation was established as G--T at the first position of codon 111 (GTC-TTC) by polymerase chain reaction amplification techniques. A family study showed that the two original carriers of Hb Peterborough were members of the same family as the proband examined in this study. This finding, and the presence of a second unrelated family carrying Hb Peterborough in Campania, strongly suggests that the DNA mutation associated with this variant originated in Southern Italy. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|