Literature DB >> 2900806

Linkage analysis of the properdin deficiency gene: suggestion of a locus in the proximal part of the short arm of the X chromosome.

P Goonewardena1, A G Sjöholm, L A Nilsson, U Pettersson.   

Abstract

Properdin is a component of the alternative pathway of complement activation. Inherited deficiency of the protein predisposes an individual to develop meningococcal disease. A family segregating for properdin deficiency (McKNo 31206), in a manner consistent with X-linked recessive inheritance, was studied by RFLP analysis using 24 X-chromosome-specific DNA probes of known regional assignments. Linkage was observed to the OTC locus and the DXS7 locus. These results suggest that the properdin gene is located on the short arm of the X chromosome in the region Xp21.1-Xcen.

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Year:  1988        PMID： 2900806     DOI： 10.1016/0888-7543(88)90092-4

Source DB:  PubMed          Journal:  Genomics        ISSN： 0888-7543            Impact factor:   5.736


  6 in total

1.  Prevalence of hereditary properdin, C7 and C8 deficiencies in patients with meningococcal infections.

Authors:  M Schlesinger; Z Nave; Y Levy; P E Slater; Z Fishelson
Journal:  Clin Exp Immunol       Date:  1990-09       Impact factor: 4.330

2.  A novel mutation W388X underlying properdin deficiency in a Finnish family.

Authors:  M Helminen; S Seitsonen; H Jarva; S Meri; I E Järvelä
Journal:  Scand J Immunol       Date:  2012-04       Impact factor: 3.487

Review 3.  The molecular basis of X-linked immunodeficiency disease.

Authors:  C Kinnon; R Levinsky
Journal:  J Inherit Metab Dis       Date:  1992       Impact factor: 4.982

Review 4.  Infectious diseases associated with complement deficiencies.

Authors:  J E Figueroa; P Densen
Journal:  Clin Microbiol Rev       Date:  1991-07       Impact factor: 26.132

5.  A highly polymorphic dinucleotide repeat on the proximal short arm of the human X chromosome: linkage mapping of the synapsin I/A-raf-1 genes.

Authors:  C U Kirchgessner; J A Trofatter; M M Mahtani; H F Willard; L J DeGennaro
Journal:  Am J Hum Genet       Date:  1991-07       Impact factor: 11.025

6.  Characterization of the human properdin gene.

Authors:  K F Nolan; S Kaluz; J M Higgins; D Goundis; K B Reid
Journal:  Biochem J       Date:  1992-10-01       Impact factor: 3.857
  6 in total

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