RT Journal Article
SR Electronic
T1 Mapping of the X linked form of hyper IgM syndrome (HIGM1)
JF Journal of Medical Genetics
JO J Med Genet
FD BMJ Publishing Group Ltd
SP 202
OP 205
DO 10.1136/jmg.30.3.202
VO 30
IS 3
A1 M Padayachee
A1 R J Levinsky
A1 C Kinnon
A1 A Finn
A1 C McKeown
A1 C Feighery
A1 L D Notarangelo
A1 R W Hendriks
A1 A P Read
A1 S Malcolm
YR 1993
UL http://jmg.bmj.com/content/30/3/202.abstract
AB 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.