Mapping of the X linked form of hyper IgM syndrome (HIGM1)

J Med Genet. 1993 Mar;30(3):202-5. doi: 10.1136/jmg.30.3.202.

Abstract

X linked immunodeficiency with hyperimmunoglobulinaemia M (HIGM1), which is characterised by agammaglobulinaemia together with excess IgM production reflecting an impairment of the immunoglobulin heavy chain class switch of B lymphocytes, has been mapped to Xq26. We report multipoint linkage data in six families with HIGM1 which show that the most likely position for the gene is close to HPRT with a maximum lod score of 4.89. The finding of recombinations between HIGM1 and both HPRT and DXS42 implies that HIGM1 is not allelic to X linked lymphoproliferative disease. These data will be useful in genetic counselling in families and will also be useful in testing candidate genes.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Base Sequence
  • Blotting, Southern
  • Chromosome Mapping*
  • DNA, Single-Stranded / chemistry
  • Female
  • Genetic Linkage*
  • Genetic Markers
  • Humans
  • Hypergammaglobulinemia / genetics*
  • Immunoglobulin M*
  • Lod Score
  • Male
  • Molecular Sequence Data
  • Oligonucleotide Probes
  • Pedigree
  • Polymerase Chain Reaction
  • Polymorphism, Restriction Fragment Length
  • Syndrome
  • X Chromosome*

Substances

  • DNA, Single-Stranded
  • Genetic Markers
  • Immunoglobulin M
  • Oligonucleotide Probes