Literature DB >> 1511058

Elliptocytosis associated with an abnormal alpha glycophorin.

Y Q Lu1, J F Liu, C H Huang, O O Blumenfeld, R S Schwartz, C Lawrence, R L Nagel.   

Abstract

A case of elliptocytosis associated with an undescribed abnormal alpha glycophorin (alpha GP) is reported. Using immunoblotting techniques, a clear-cut minor band 6' was detected emerging just behind the monomer of delta GP (band 6) when probed with anti-alpha GP antiserum. It also reacted with anti-peptide C antiserum, suggesting that this new band with a molecular weight of 24 K is related to the structural alteration of alpha GP and not delta GP. The erythrocyte membrane proteins of the patient exhibited a quite normal pattern, with a normal alpha spectrin/beta spectrin ratio, but the reaction with anti-protein 4.1 serum confirmed the increase in proteolytic susceptibility of her protein 4.1. The results of DNA mapping implied that the abnormality may be due to a short deletion of the heterozygote. The significance of deviation involving the alpha GP and protein 4.1 to the elliptocytic change of erythrocyte shape is briefly discussed.

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Year:  1992        PMID: 1511058     DOI: 10.1007/bf01698140

Source DB:  PubMed          Journal:  Ann Hematol        ISSN: 0939-5555            Impact factor:   3.673


  18 in total

1.  Occurrence of the alpha I 22 Arg----His (CGT----CAT) spectrin mutation in Tunisia: potential association with severe elliptopoikilocytosis.

Authors:  F Baklouti; J Marechal; L Morle; N Alloisio; R Wilmotte; B Pothier; M T Ducluzeau; R Kastally; J Delaunay
Journal:  Br J Haematol       Date:  1991-05       Impact factor: 6.998

2.  An insertional frameshift mutation of the beta-spectrin gene associated with elliptocytosis in spectrin nice (beta 220/216).

Authors:  W T Tse; P G Gallagher; B Pothier; F F Costa; A Scarpa; J Delaunay; B G Forget
Journal:  Blood       Date:  1991-07-15       Impact factor: 22.113

3.  Molecular analysis of hereditary elliptocytosis with reduced protein 4.1 in the French Northern Alps.

Authors:  S Feddal; G Brunet; L Roda; S Chabanis; N Alloisio; L Morlé; M T Ducluzeau; J Maréchal; J M Robert; E J Benz
Journal:  Blood       Date:  1991-10-15       Impact factor: 22.113

4.  Molecular genetic analysis of a hybrid gene encoding Sta glycophorin of the human erythrocyte membrane.

Authors:  C H Huang; M L Guizzo; M Kikuchi; O O Blumenfeld
Journal:  Blood       Date:  1989-08-01       Impact factor: 22.113

5.  Analysis of human Y-chromosome-specific reiterated DNA in chromosome variants.

Authors:  L M Kunkel; K D Smith; S H Boyer; D S Borgaonkar; S S Wachtel; O J Miller; W R Breg; H W Jones; J M Rary
Journal:  Proc Natl Acad Sci U S A       Date:  1977-03       Impact factor: 11.205

6.  A novel gene member of the human glycophorin A and B gene family. Molecular cloning and expression.

Authors:  A Vignal; C Rahuel; J London; B Cherif Zahar; S Schaff; C Hattab; Y Okubo; J P Cartron
Journal:  Eur J Biochem       Date:  1990-08-17

Review 7.  The blood group MNSs-active sialoglycoproteins.

Authors:  D J Anstee
Journal:  Semin Hematol       Date:  1981-01       Impact factor: 3.851

8.  A molecular study of heterozygous protein 4.1 deficiency in hereditary elliptocytosis.

Authors:  S Lambert; J Conboy; S Zail
Journal:  Blood       Date:  1988-12       Impact factor: 22.113

9.  Identification of a novel human glycophorin, glycophorin E, by isolation of genomic clones and complementary DNA clones utilizing polymerase chain reaction.

Authors:  S Kudo; M Fukuda
Journal:  J Biol Chem       Date:  1990-01-15       Impact factor: 5.157

10.  Distinct variants of erythrocyte protein 4.1 inherited in linkage with elliptocytosis and Rh type in three white families.

Authors:  M McGuire; B L Smith; P Agre
Journal:  Blood       Date:  1988-07       Impact factor: 22.113

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