The results of an epidemiological survey on Huntington's disease in the Lazio Region, Central Italy, and of linkage studies in a subset of families are reported. From a total of 99 ascertained families and 491 patients, a prevalence of 25.6 x 10-6 was obtained, with distributions of age at onset and age at death similar to those described in the literature. No relationship with the sex of the transmitting parent was observed. Analysis of 10 chromosome 4 restriction fragment length polymorphisms in 11 families showed consistent linkage between the genetic loci D4S10, D4S43 and D4S95, and the disease. A recombination rate of 0.08 for D4S10 markers was obtained in this sample. Allelic frequencies of DNA markers in the general population are also reported.

Frontali, M., Malaspina, P., Rossi, C., Jacopini, A., Vivona, G., Pergola, M., et al. (1990). Epidemiological and linkage studies on Huntington's disease in Italy. HUMAN GENETICS, 85(2), 165-170 [10.1007/BF00193190].

Epidemiological and linkage studies on Huntington's disease in Italy

MALASPINA, PATRIZIA;ROSSI, CARLA;NOVELLETTO, ANDREA
1990-01-01

Abstract

The results of an epidemiological survey on Huntington's disease in the Lazio Region, Central Italy, and of linkage studies in a subset of families are reported. From a total of 99 ascertained families and 491 patients, a prevalence of 25.6 x 10-6 was obtained, with distributions of age at onset and age at death similar to those described in the literature. No relationship with the sex of the transmitting parent was observed. Analysis of 10 chromosome 4 restriction fragment length polymorphisms in 11 families showed consistent linkage between the genetic loci D4S10, D4S43 and D4S95, and the disease. A recombination rate of 0.08 for D4S10 markers was obtained in this sample. Allelic frequencies of DNA markers in the general population are also reported.
Pubblicato
Rilevanza internazionale
Articolo
Sì, ma tipo non specificato
Settore BIO/18 - Genetica
English
Con Impact Factor ISI
article; dna probe; ethnic or racial aspects; gene location; genetic engineering; genetic linkage; heredity; human; huntington chorea; italy; major clinical study; prevalence; priority journal; restriction fragment length polymorphism; Adolescent; Adult; Age Factors; Alleles; Child; Chromosome Banding; Female; Heterozygote Detection; Human; Huntington Disease; Italy; Linkage (Genetics); Male; Middle Age; Prevalence; Sex Factors; Support, Non-U.S. Gov't
Frontali, M., Malaspina, P., Rossi, C., Jacopini, A., Vivona, G., Pergola, M., et al. (1990). Epidemiological and linkage studies on Huntington's disease in Italy. HUMAN GENETICS, 85(2), 165-170 [10.1007/BF00193190].
Frontali, M; Malaspina, P; Rossi, C; Jacopini, A; Vivona, G; Pergola, M; Palena, A; Novelletto, A
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2108/44460
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