Literature DB >> 7576715

Fluorescent detection of microsatellite polymorphisms: properdin deficiency linked to PFC microsatellite.

D Agardi1, M Pigg, A G Sjöholm, L Truedsson, P J Späth, E J Kuijper, C C Tijssen, L Tranebjaerg, K H Gustavson, P J Ulfendahl.   

Abstract

Microsatellite polymorphisms are widely used to map the genes responsible for inherited disorders. The most commonly used detection is based on radioactive labelling and autoradiography. We now present the successful detection of fluorescence-labelled allelic fragments on an automated DNA sequencer. This allows for safer and quicker detection as well as a potential for more efficient processing of the data, e.g. for linkage analysis. The system was tested in the mapping of properdin deficiency, an X-linked condition with increased risk for a severe infection in the affected.

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Year:  1995        PMID: 7576715

Source DB:  PubMed          Journal:  Exp Clin Immunogenet        ISSN: 0254-9670


  1 in total

1.  Properdin deficiency in a large Swiss family: identification of a stop codon in the properdin gene, and association of meningococcal disease with lack of the IgG2 allotype marker G2m(n).

Authors:  P J Späth; A G Sjöholm; G N Fredrikson; G Misiano; R Scherz; U B Schaad; B Uhring-Lambert; G Hauptmann; J Westberg; M Uhlén; C Wadelius; L Truedsson
Journal:  Clin Exp Immunol       Date:  1999-11       Impact factor: 4.330

  1 in total

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