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(AC)n microsatellite polymorphism and 14-nucleotide deletion in exon 42 ankyrin-1 gene in several families with hereditary spherocytosis in a population of South-Western Poland

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Abstract

Defects in ankyrin-1 have been implicated in approximately half of all patients with hereditary spherocytosis. However, not all polymorphisms in this gene lead to the changes in expressed protein or to the changes of the level of its expression. In this study, we report on several cases of the (AC)n microsatellite polymorphism in 3′ untranslated region of ANK1 gene found in nine families (19 patients) with hereditary spherocytosis (HS) and also in ten healthy individuals from the same territory. We also found that 14-nucleotide deletion in this region of ANK1 which was shifted by five nucleotides in relation to another 14-nucleotide deletion listed in Single Nucleotide Polymorphism National Center for Biotechnology Information (SNP NCBI) database. This deletion seems to be present only in individuals with 11/14 and 13/14 AC repeats what would be an interesting correlation between these two features. However, comparison of the data obtained for HS patients and healthy individuals indicates that both polymorphisms are not connected to the pathology of hereditary spherocytosis.

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References

  1. Boguslawska DM, Heger E, Chorzalska A, Nierzwicka M, Holojda J, Swiderska A, Straburzynska A, Pazdzior G, Langner M, Sikorski AF (2004) Hereditary spherocytosis: identification of several HS families with ankyrin and band 3 deficiency in a population of southwestern Poland. Ann Hematol 83:28–33

    Article  CAS  PubMed  Google Scholar 

  2. Delaunay J, Alloisio N, Morle L (1996) Molecular genetics of hereditary spherocytosis. Cell Mol Biol Lett 1:49–65

    CAS  Google Scholar 

  3. Eber SW, Gonzales JM, Lux ML, Scarpa AL, Tse WT, Dornwell M, Herbers J, Kugler W, Ozcan R, Pekrun A, Gallagher PG, Schroter W, Forget BG, Lux SE (1996) Ankyrin-1 mutations are a major cause of dominant and recessive hereditary spherocytosis. Nat Genet 13:214–218

    Article  CAS  PubMed  Google Scholar 

  4. Jarolim P, Rubin HL, Brabec V, Palek J (1995) Comparison of the ankyrin (AC)n microsatellites in genomic DNA and mRNA reveals absence of one ankyrin mRNA allele in 20% of patients with hereditary spherocytosis. Blood 85:3278–3282

    CAS  PubMed  Google Scholar 

  5. Ozcan R, Jarolim P, Lux SE, Ungewickell E, Eber SW (2003) Simultaneous (AC)n microsatellite polymorphism analysis and single-stranded conformation polymorphism screening is an efficient strategy for detecting ankyrin-1 mutations in dominant hereditary spherocytosis. Br J Haematol 122:69–77

    Article  Google Scholar 

  6. Paździor G, Langner M., Chmura A, Bogusławska D, Heger E, Chorzalska A, Sikorski AF (2003) Kinetics of haemolysis of spherocytic erythrocytes. Cell Mol Biol Lett 8:639–648

    PubMed  Google Scholar 

  7. Polymeropoulos MH, Rath DS, Xiao H, Merril CR (1991) Dinucleotide repeat polymorphism at the human ankyrin gene (ANK1). Nucleic Acids Res 19:969

    Article  CAS  PubMed  Google Scholar 

  8. Tse WT, Lux SE (1999) Red blood cell membrane disorders. Br J Haematol 104:2–13

    Article  CAS  PubMed  Google Scholar 

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Authors and Affiliations

  1. Institute of Biotechnology and Environmental Sciences, University of Zielona Góra, ul. Monte Cassino 21B, 65-561, Zielona Góra, Poland

    Dżamila M. Bogusławska, Elżbieta Heger, Katarzyna Baldy-Chudzik, Marta Maciejewska, Anna Likwiarz & Aleksander F. Sikorski

  2. Laboratory of DNA Sequencing and Oligonucleotide Synthesis, Institute of Biochemistry and Biophysics, Polish Academy of Sciences, ul. Pawińskiego 5A, 02-106, Warszawa, Poland

    Marek Zagulski

  3. Institute of Biochemistry and Molecular Biology, University of Wrocław, ul. Przybyszewskiego 63/77, 51-148, Wrocław, Poland

    Aleksander F. Sikorski

Authors
  1. Dżamila M. Bogusławska
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  2. Elżbieta Heger
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  3. Katarzyna Baldy-Chudzik
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  4. Marek Zagulski
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  5. Marta Maciejewska
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  6. Anna Likwiarz
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  7. Aleksander F. Sikorski
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Corresponding author

Correspondence to Aleksander F. Sikorski.

Additional information

Grants for research project: 1. The study was supported by the Scientific Research Committee (KBN) as a research project from 2004 to 2005 (Grant No. 2 PO5A 081 26). 2. DNA Sequencing and Oligonucleotide Synthesis Lab IBB PAN in Warsaw—Minigrant No. G04.

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Bogusławska, D.M., Heger, E., Baldy-Chudzik, K. et al. (AC)n microsatellite polymorphism and 14-nucleotide deletion in exon 42 ankyrin-1 gene in several families with hereditary spherocytosis in a population of South-Western Poland. Ann Hematol 85, 337–339 (2006). https://doi.org/10.1007/s00277-006-0083-7

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  • DOI: https://doi.org/10.1007/s00277-006-0083-7

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