Epidemiological and linkage studies on Huntington's disease in Italy |
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| Authors: | Marina Frontali Patrizia Malaspina Carla Rossi Anna G Jacopini Giuseppa Vivona Mariano S Pergola Antonella Palena Andrea Novelletto |
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| Institution: | (1) Istituto di Medicina Sperimentale CNR, I-00137 Rome, Italy;(2) Istituto di Psicologia, CNR, I-00137 Rome, Italy;(3) Dipartimento di Biologia, Università Tor Vergata, I-00173 Rome, Italy;(4) Dipartimento di Matematica, Università Tor Vergata, I-00173 Rome, Italy;(5) Dipartimento Sanitá e Biologia Cellulare, Università Tor Vergata, I-00173 Rome, Italy;(6) Regione Lazio, USL RM1, I-00185 Rome, Italy;(7) Dipartimento di Biologia, 2nd University of Rome, La Romanina, I-00173 Rome, Italy |
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| Abstract: | Summary 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 × 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. |
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