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Genetic analysis of Huntington disease in Italy

โœ Scribed by Ajmar, F. ;Mandich, P. ;Bellone, E. ;Abbruzzese, G.

Publisher
John Wiley and Sons
Year
1991
Tongue
English
Weight
374 KB
Volume
39
Category
Article
ISSN
0148-7299

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โœฆ Synopsis

Abstract

Twelve Italian families with Huntington disease were tested with 10 probes known to be linked to the disease locus and able to detect polymorphisms at the following loci on chromosome 4: D4S10, D4S127, D4S95, D4S43, D4S115, D4S111, D4S90. The results confirmed the applicability of the linkage approach for presymptomatic diagnosis in Italian families. Positive lod scores were found between D4S10, D4S95, D4S43 and the disease, wherease D4S90 did not indicate significant linkage values. With the limitations due to the small size of the tested sample, no genetic heterogeneity was detected in the families examined for loci D4S10, D4S95/S127, D4S43.

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## Abstract The erythrocyte osmotic fragility was evaluated on 19 unmedicated subjects with Huntington's disease and 42 individuals at 50% risk, 27 children at 25% risk, and a group of 60 hematologically normal control persons. Five older subjects at 50% risk for Huntington's disease as well as 6 A