GENETIC TESTING - PART I 

Minerva Biotecnologica 2000 March;12(1):49-55

Copyright © 2000 EDIZIONI MINERVA MEDICA

lingua: Inglese

Genetic testing of Huntington disease

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.