Identification of deletions in thebtk gene allows unambiguous assessment of carrier status in families with X-linked agammaglobulinaemia (original) (raw)

Abstract

Mutations within the_btk_ gene have recently been shown to cause X-linked agammaglobulinaemia (XLA). Altered patterns of DNA restriction fragments are seen by Southern blot analysis of DNA from affected patients with deletions in the_btk_ gene. We have identified seven affected families in which altered restriction fragments can be used to diagnose and confirm the carrier status of female relatives of affected boys and in prenatal diagnosis.

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References

• Allen RC, Belmont JW (1992) Dinucleotide repeat polymorphism at the DXS 178 locus. Hum Mol Genet 1:216
  Google Scholar
• Allen RC, Zoghbi HY, Moseley AB, Rosenblatt HM, Belmont JW (1992) Methylation of_Hpa_II and_Hha_I sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation. Am J Hum Genet 51:1229–1239
  Google Scholar
• Alterman LA, Alwis M de, Genet S, Lovering R, Middleton-Price H, Morgan G, Jones A, Malcolm S, Levinsky RJ, Kinnon C (1992) Carrier detection for X-linked agammaglobulinemia using X-inactivation analysis of purified B cells. J Immunol Methods 166:111–116
  Google Scholar
• Bradley LAD, Sweatman AK, Lovering RC, Jones AM, Morgan G, Levinsky RJ, Kinnon C (1994) Mutation detection in the X-linked agammaglobulinemia gene, btk, using single strand conformation polymorphism analysis. Hum Mol Genet 3:79–83
  Google Scholar
• Desnick RJ, Bernstein HS, Astrin KH, Bishop DF (1987) Fabry disease: molecular diagnosis of hemizygotes and heterozygotes. Enzyme 38:54–64
  Google Scholar
• Lovering R, Middleton-Price HR, O'Reilly M-AJ, Genet SA, Parkar M, Sweatman AK, Bradley LD, Alterman LA, Malcolm S, Morgan G, Levinsky RJ, Kinnon C (1993) Genetic linkage analysis identifies new proximal and distal flanking markers for the X-linked agammaglobulinemia gene locus, refining its localization in Xg22. Hum Mol Genet 2:139–141
  Google Scholar
• Parkar M, Lovering R, Levinsky RJ, Kinnon C (1994) Genetic mapping of two loci, DXS454 and DXS458, with respect to the X-linked agammaglobulinemia gene locus in Xg22. Hum Genet 93:89–90
  Google Scholar
• Parolini O, Hejtmancik JF, Allen RC, Belmont JW, Lassiter GL, Henry MJ, Barker DF, Conley ME (1993) Linkage analysis and physical mapping near the gene for X-linked agammaglobulinemia at Xg22. Genomics 15:342–349
  Google Scholar
• Tsukada S, Saffron DC, Rawlings DJ, Parolini O, Allen RC, Klisak I, Sparkes RS, Kubagawa H, Mohandas T, Quart S, Belmont JW, Copper MD, Conley ME, Witte ON (1993) Deficient expression of a B cell cytoplasmic tyrosine kinase in a human X-linked agammaglobulinemia. Cell 72:279–290
  Google Scholar
• Vetrie D, Vorechovsky I, Sideras P, Holland J, Davies A, Flinter F, Hammalstrom L, Kinnon C, Levinsky R, Bobrow M, Smith CIE, Bentley D (1993) The gene involved in X-linked agammaglobulinaemia is a member of the src family of proteintyrosine kinases. Nature 361:226–233
  Google Scholar
• Weers M de, Mensink RGJ, Kenter M, Schuurman RKB (1992) Three dinucleotide repeat polymorphisms at the DXS178 locus. Hum Mol Genet 1:653
  Google Scholar

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Authors and Affiliations

1. Division of Cell and Molecular Biology, Institute of Child Health, 30 Guilford Street, WC1N 1EH, London, UK
   Ruth C. Lovering, Angela Sweatman, Gareth Morgan, Roland J. Levinsky & Christine Kinnon
2. Division of Public Health, Institute of Child Health, 30 Guilford Street, WC1N 1EH, London, UK
   Sally A. Genet & Helen R. Middleton-Price
3. Division of Medical and Molecular Genetics, UMDS of Guy's and St. Thomas's Hospitals, Guy's Tower, SE1 9RT, London, UK
   David Vetrie & David Bentley
4. Center for BioTechnology, Karolinska Institute, NOVUM, S-14157, Huddinge, Sweden
   Igor Vorechovsky
5. Unidada de Immunologia, Hospital La Paz, Pasco de la castellana 261, 28046, Madrid, Spain
   Gumersindo Fontan
6. Unidad de Immunologia, Ciutat Sanitarie i Universitaria Vall d'Hebron, 08035, Barcelona, Spain
   Teresa Español

Authors

1. Ruth C. Lovering
2. Angela Sweatman
3. Sally A. Genet
4. Helen R. Middleton-Price
5. David Vetrie
6. Igor Vorechovsky
7. David Bentley
8. Gumersindo Fontan
9. Teresa Español
10. Gareth Morgan
11. Roland J. Levinsky
12. Christine Kinnon

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Lovering, R.C., Sweatman, A., Genet, S.A. et al. Identification of deletions in the_btk_ gene allows unambiguous assessment of carrier status in families with X-linked agammaglobulinaemia.Hum Genet 94, 77–79 (1994). https://doi.org/10.1007/BF02272846

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• Received: 01 November 1993
• Revised: 21 December 1993
• Issue date: July 1994
• DOI: https://doi.org/10.1007/BF02272846

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