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Linkage analysis in properdin deficiency families: refined location in proximal Xp
Author(s) -
Wadelius Claes,
Pigg Maritta,
Sundvall Mats,
Sjöholm Anders G.,
Goonewardena Ponmani,
Kuijper Ed J.,
Tijssen Cees C.,
Jansz Anton,
Späth Peter J.,
Schaad Ulf B.,
Tranebjaerg Lisbeth,
Nielsen Hans E.,
Söderström Claos,
Annerén Göran,
Pettersson Ulf
Publication year - 1992
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1992.tb03126.x
Subject(s) - properdin , genetics , microsatellite , biology , genetic linkage , gene , alternative complement pathway , complement system , allele , antibody
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 (Z max = 13.3 at θ max = 0.00) and DXS426 (Z max = 12.9 at θ 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.