title: Genetic analysis of Huntington disease in Italy.
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, whereas 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.
authors.affiliation: Section of Medical Genetics, ISMI, University of Genova, Italy.
authors.forename: F
authors.initials: F
authors.lastname: Ajmar
authors.forename: P
authors.initials: P
authors.lastname: Mandich
authors.forename: E
authors.initials: E
authors.lastname: Bellone
authors.forename: G
authors.initials: G
authors.lastname: Abbruzzese
mesh_terms: D015342:DNA Probes; D005819:Genetic Markers; D006801:Humans; D006816:Huntington Disease / Q000235:genetics*; D007558:Italy; D008126:Lod Score; D011110:Polymorphism, Genetic
chemical_list: D015342:DNA Probes; D005819:Genetic Markers