Localization of the properdin structural locus to Xp11.23-Xp21.1.
Properdin is a serum protein belonging to the alternative pathway of complement activation whose absence is often associated with fatal bacterial infections. Properdin deficiency segregates with an X-linked recessive pattern and its position has been recently refined by genetic linkage analysis to the proximal part of the X-chromosome short arm near the OTC and DXS7 loci. We have hybridized an 0.8-kb genomic clone encoding part of the human properdin gene to a panel of somatic cell hybrids retaining different portions of the human X chromosome and thereby localized the probe to Xcen-Xp21.1. Furthermore, in situ hybridization of the same probe to replication banded metaphase chromosomes refined this localization to the region Xp11.23-Xp21.1 (with a peak grain distribution in the region equivalent to Xp11.4). As OTC and DXS7 map to Xp21.1 and Xp11.3, respectively, the data presented here strongly suggest that the X-linked deficiency syndrome is due to a defect in the locus encoding the structural properdin gene or in a physically close regulatory locus.
Goundis
D
D
Department of Biochemistry, University of Oxford, United Kingdom.
Holt
S M
SM
Boyd
Y
Y
Reid
K B
KB
D001345:Autoradiography; D002869:Chromosome Aberrations; D002871:Chromosome Banding; D002874:Chromosome Mapping; D004247:DNA / Q000235:genetics; D015342:DNA Probes; D005796:Genes; D006801:Humans; D006822:Hybrid Cells; D008677:Metaphase; D012150:Polymorphism, Restriction Fragment Length; D011414:Properdin / Q000172:deficiency / Q000235:genetics*; D014960:X Chromosome
D015342:DNA Probes; D011414:Properdin; D004247:DNA