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

J Med Genet. 1993 Jun;30(6):512-4. doi: 10.1136/jmg.30.6.512.

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Agammaglobulinemia / diagnosis
  • Agammaglobulinemia / genetics*
  • Electrophoresis, Gel, Pulsed-Field
  • Female
  • Gene Frequency
  • Genetic Carrier Screening*
  • Humans
  • Male
  • Pedigree
  • Polymorphism, Restriction Fragment Length*
  • X Chromosome*