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Huntington's disease: predictive testing and the molecular genetics laboratory
Author(s) -
Lazarou L. P.,
Meredith A. L.,
Myring J. M.,
Tyler A.,
Morris M.,
Ball O. M.,
Harper P. S.
Publication year - 1993
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.1399-0004.1993.tb04441.x
Subject(s) - predictive testing , genetics , loss of heterozygosity , disease , genetic testing , medical genetics , biology , computational biology , medicine , pathology , allele , gene
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.