Literature DB >> 8098998

Huntington's disease: predictive testing and the molecular genetics laboratory.

L P Lazarou1, A L Meredith, J M Myring, A Tyler, M Morris, D M Ball, P S Harper.   

Abstract

We describe the laboratory-related aspects of a series of 40 completed presymptomatic tests for Huntington's disease, using linked DNA markers. Pedigree structure and marker heterozygosity are shown to be important factors, both in the number of laboratory analyses required to give an informative situation and the residual uncertainty of the final estimate. Specific problems encountered by the testing laboratory are described, with possible ways of avoiding them, and the close links required between laboratory and clinical staff are emphasised.

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Year:  1993        PMID: 8098998     DOI: 10.1111/j.1399-0004.1993.tb04441.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN: 0009-9163            Impact factor:   4.438


  2 in total

1.  DNA storage and duplicate sampling: lessons learnt from testing for Huntington's disease.

Authors:  P J Morrison; C A Graham; N C Nevin
Journal:  J Med Genet       Date:  1993-12       Impact factor: 6.318

Review 2.  A specific mutation for Huntington's disease.

Authors:  P S Harper
Journal:  J Med Genet       Date:  1993-12       Impact factor: 6.318

  2 in total

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