Molecular biology techniques in the diagnosis of monogenic diseases

C. Wagener, J. T. Epplen, H. Ehrlich, H. Peretz, P. Vihko

Research output: Contribution to journalReview articlepeer-review


Monogenic diseases are defined by their patterns of inheritance: autosomal dominant, autosomal recessive, or X-linked. This article examines the molecular biology techniques available for their study and detection. These techniques comprise direct detection of mutations (including trinucleotide repeats) and linkage analysis. The usefulness of these techniques is compared to conventional biochemical tests for the diagnosis of various inherited diseases. The authors stress the need for caution in the interpretation of test results and the importance of genetic counseling.

Original languageEnglish
Pages (from-to)95-100
Number of pages6
JournalJournal of the International Federation of Clinical Chemistry
Issue number3
StatePublished - 1994
Externally publishedYes


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