title: Linkage analysis in properdin deficiency families: refined location in proximal Xp.
abstract: Properdin is a component of the alternative activation pathway of the complement system. Deficiency or dysfunction of the protein is inherited in an X-linked recessive manner. Affected males have an increased risk of developing meningococcal disease. Six multi-generation families with different types of properdin deficiency were analyzed using microsatellite and other polymorphisms on the X chromosome. Based on multipoint data, it was found that the disease gene maps close to DXS255 (Zmax = 13.3 at theta max = 0.00) and DXS426 (Zmax = 12.9 at theta max = 0.00) on the Xp-arm near the centromere. There was no indication of genetic heterogeneity among the six families analyzed. Thus it is now possible to perform accurate DNA-based determination of the inheritance of the mutation in affected families.
authors.affiliation: Department of Clinical Genetics, University Hospital, Uppsala, Sweden.
authors.forename: C
authors.initials: C
authors.lastname: Wadelius
authors.forename: M
authors.initials: M
authors.lastname: Pigg
authors.forename: M
authors.initials: M
authors.lastname: Sundvall
authors.forename: A G
authors.initials: AG
authors.lastname: Sjöholm
authors.forename: P
authors.initials: P
authors.lastname: Goonewardena
authors.forename: E J
authors.initials: EJ
authors.lastname: Kuijper
authors.forename: C C
authors.initials: CC
authors.lastname: Tijssen
authors.forename: A
authors.initials: A
authors.lastname: Jansz
authors.forename: P J
authors.initials: PJ
authors.lastname: Späth
authors.forename: U B
authors.initials: UB
authors.lastname: Schaad
mesh_terms: D002874:Chromosome Mapping; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D008126:Lod Score; D008297:Male; D010375:Pedigree; D011110:Polymorphism, Genetic; D011414:Properdin / Q000172:deficiency* / Q000235:genetics*; D012729:Sex Chromosome Aberrations / Q000235:genetics*; D014960:X Chromosome
chemical_list: D011414:Properdin