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  • A new restriction fragment length polymorphism at the DXS101 locus allows carrier detection in a family with X linked agammaglobulinaemia.

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Research Article
A new restriction fragment length polymorphism at the DXS101 locus allows carrier detection in a family with X linked agammaglobulinaemia.
  1. A Sweatman,
  2. R Lovering,
  3. H Middleton-Price,
  4. A Jones,
  5. G Morgan,
  6. R Levinsky,
  7. C Kinnon
  1. Division of Cell and Molecular Biology, Institute of Child Health, London, UK.

    Abstract

    The gene responsible for X linked agammaglobulinaemia (XLA) lies in Xq22 and has recently been identified as atk. DXS101 is a polymorphic locus which is closely linked to the disease locus. In this report we describe the identification, by pulsed field gel electrophoresis, of a new polymorphism at the DXS101 locus with a predicted heterozygosity of 4.9%. Despite this low value, we show how this polymorphism has been important in carrier status determination in a family with XLA where assessment was not possible by other means.

    https://doi.org/10.1136/jmg.30.6.512

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