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  • F-Sardinia  (1)
  • HPFH homozgote  (1)
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  • 1
    ISSN: 1573-4927
    Schlagwort(e): HPFH homozgote ; γ-chain type ; globin chain synthesis
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Biologie , Chemie und Pharmazie
    Notizen: Abstract Two sons of a previously reported Ghanaian homozygote for the hereditary persistence of fetal hemoglobin (HPFH) (Ringelhann et al., 1970) also are HPFH homozygotes. In addition, another unrelated adult Ghanaian homozygote has been detected. All of these Ghanaian homozygotes as well as three American Black HPFH homozygotes have the G γ A γ type of HPFH with a G γ to A γ ratio of about 3:2, in contrast to an Asiatic Indian homozygote who has the G γ type. Globin chain synthesis in HPFH homozygotes is unbalanced, with a γ/α ratio of 0.6 or less, whereas it is balanced in heterozygotes according to most reports.
    Materialart: Digitale Medien
    Standort Signatur Erwartet Verfügbarkeit
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  • 2
    ISSN: 1573-4927
    Schlagwort(e): fetal hemoglobin ; βo-thalassemia ; γ globin gene triplication ; γ globin gene deletion ; haplotypes ; silent β-chain variant ; F-Sardinia ; the AγT chain ; —Gγ—Gγ— and —Aγ—Aγ— arrangements
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Biologie , Chemie und Pharmazie
    Notizen: Abstract Fetal hemoglobin analysis and globin gene mapping have identified one type of βo-thalassemia and four different γ globin gene arrangements among newborn babies from the northern part of Sardinia. The βo-thalassemia with a nonsense mutation at codon 39 was found on two chromosomes, each with a distinct pattern of polymorphic restriction sites; one had the AγT (Aγ75 Ile → Thr) mutation, while the second did not. Four closely related haplotypes were identified for chromosomes with the AγT mutation. The γ-thalassemia heterozygosity with the —GAγ— hybrid gene fell into two categories. One apparently originated through crossing-over between mismatched chromosomes characterized by the most common haplotype, while the other had polymorphisms resembling those of a less frequently occurring chromosome. Chromosomes with the —Gγ—AGγ—Aγ— triplication had polymorphic sites to be expected for this condition, being complimentary to the —GAγ— thalassemias. Of the two additional γ globin gene variations the —Gγ—Gγ— arrangement was associated with the chromosome with the most commonly occurring haplotype, while the chromosome with the —Aγ—Aγ— arrangement had a haplotype characteristic for that with the AγT mutation, which identified an —Aγ—AγT— arrangement. The incidental discovery of a silent β-chain mutant, Hb Hamilton, with the Val → Ile substitution at position β11, in five newborns was also reported.
    Materialart: Digitale Medien
    Standort Signatur Erwartet Verfügbarkeit
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