Literature DB >> 638255

Isoelectric focusing of human hemoglobin: its application to screening, to the characterization of 70 variants, and to the study of modified fractions of normal hemoglobins.

P Basset, Y Beuzard, M C Garel, J Rosa.   

Abstract

Isoelectric focusing on slabs of acrylamide gel was adapted for the screening of abnormal hemoglobins, the characterization of 70 human variants, and the study of minor fractions of normal hemoglobin. The screening method was as fast and inexpensive as conventional techniques, allowed the simultaneous analysis of some 50 samples of whole blood, and yielded resolution superior to that obtained by other methods with hemolysates. Among the 70 variants, 31 mutants could not be separated from HbS by cellulose acetate electrophoresis. The characterization technique of electrofocusing allowed us to distinguish between most variants. Only one mutant, Hb Galveston, could be confused with HbS. Hb Köln, the most frequent unstable mutant, exhibited a special pattern. HbA1C was separated from HbA. Preliminary results indicate that quantitation of HbA1C by gel scanning is feasible.

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Year:  1978        PMID: 638255

Source DB:  PubMed          Journal:  Blood        ISSN: 0006-4971            Impact factor:   22.113


  24 in total

1.  Hb Q-India: an uncommon variant diagnosed in three Punjabi patients with diabetes is identified by a novel DNA analysis test.

Authors:  R Abraham; M Thomas; R Britt; C Fisher; J Old
Journal:  J Clin Pathol       Date:  2003-04       Impact factor: 3.411

2.  Rapid molecular characterization of mutations leading to unstable hemoglobin beta-chain variants.

Authors:  E Girodon; N Ghanem; M Vidaud; J Riou; J Martin; F Galactéros; M Goossens
Journal:  Ann Hematol       Date:  1992-10       Impact factor: 3.673

3.  The stepwise mutation model: an experimental evaluation utilizing hemoglobin variants.

Authors:  P A Fuerst; R E Ferrell
Journal:  Genetics       Date:  1980-01       Impact factor: 4.562

4.  Interaction of heterozygous beta (0)-thalassemia and triplicated alpha globin loci in a Swiss-Spanish family.

Authors:  P Beris; R Darbellay; A Hochmann; E Pradervand; P Pugin
Journal:  Klin Wochenschr       Date:  1991-10-02

5.  Fetal hemoglobin variants in 80,000 Japanese neonates: high prevalence of Hb F Yamaguchi (A gamma T 80 Asp----Asn).

Authors:  Y Wada; T Fujita; K Kidoguchi; A Hayashi
Journal:  Hum Genet       Date:  1986-03       Impact factor: 4.132

6.  Hemoglobin abnormalities. An evaluation on new-born infants and their mothers in a maternity unit close to Brazzaville (P.R. Congo).

Authors:  M Lallemant; F Galacteros; S Lallemant-Lecoeur; J Feingold; P Carnevale; V Boukila; J Mouchet; J Rosa
Journal:  Hum Genet       Date:  1986-09       Impact factor: 4.132

Review 7.  The pressing need for point-of-care diagnostics for sickle cell disease: A review of current and future technologies.

Authors:  Patrick T McGann; Carolyn Hoppe
Journal:  Blood Cells Mol Dis       Date:  2017-08-08       Impact factor: 3.039

8.  Molecular charge and electrophoretic mobility in cetacean myoglobins of known sequence.

Authors:  T McLellan
Journal:  Biochem Genet       Date:  1984-02       Impact factor: 1.890

9.  alpha-Thalassemia caused by an unstable alpha-globin mutant.

Authors:  S A Liebhaber; Y W Kan
Journal:  J Clin Invest       Date:  1983-03       Impact factor: 14.808

10.  Genetic regulation of gamma gene expression: study of the interaction of beta-thalassemia with heterocellular HPFH.

Authors:  A M Soummer; U Testa; P Dujardin; A Guerrasio; A Henri; M Gazaix; J Riou; H Rochant; Y Beuzard; J Rosa
Journal:  Hum Genet       Date:  1981       Impact factor: 4.132

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