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Indexed/Abstracted in: EMBASE, Science Citation Index Expanded (SciSearch), Scopus
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Online ISSN 1827-160X
GENETIC TESTING - PART I
Mandich P., Di Maria E., Ajmar F.
Dipartimento di Oncologia, Biologia e Genetica, Università degli Studi - Genova, Servizio di Genetica Medica, Azienda Ospedaliera Ospedale S. Martino, Genova, Italy
Huntington’s disease is a progressive neurodegenerative disorder inherited as a dominant trait. In 1993, the mutation responsible for the disorder was identified as an expansion of a polymorphic trinucleotide repeat (CAG) in the coding sequence of the gene IT-15. The ability to assess the number of CAG repeats offered a direct test with a high degree of specificity and sensitivity, independent of family structure and co-operation of relatives. The present review will be focused on the genetic testing of Huntington’s disease and its principal applications, namely the predictive and the prenatal testing and the possibility of direct diagnosis of symptomatic individual. The possible implications and effects of these procedures will also be addressed.