caa a22 4500 467986045 CHVBK 20180323112532.0 cr unu---uuuuu 170328e19900701xx s 000 0 eng 10.1007/BF00193190 doi (NATIONALLICENCE)springer-10.1007/BF00193190 Epidemiological and linkage studies on Huntington's disease in Italy [Elektronische Daten] [Marina Frontali, Patrizia Malaspina, Carla Rossi, Anna Jacopini, Giuseppa Vivona, Mariano Pergola, Antonella Palena, Andrea Novelletto] 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. Springer-Verlag, 1990 Frontali Marina Istituto di Medicina Sperimentale CNR, I-00137, Rome, Italy aut Malaspina Patrizia Dipartimento di Biologia, Università Tor Vergata, I-00173, Rome, Italy aut Rossi Carla Dipartimento di Matematica, Università Tor Vergata, I-00173, Rome, Italy aut Jacopini Anna Istituto di Psicologia, CNR, I-00137, Rome, Italy aut Vivona Giuseppa Dipartimento Sanitá e Biologia Cellulare, Università Tor Vergata, I-00173, Rome, Italy aut Pergola Mariano Regione Lazio, USL RM1, I-00185, Rome, Italy aut Palena Antonella Dipartimento di Biologia, Università Tor Vergata, I-00173, Rome, Italy aut Novelletto Andrea Dipartimento di Biologia, Università Tor Vergata, I-00173, Rome, Italy aut Human Genetics Springer-Verlag 85/2(1990-07-01), 165-170 0340-6717 85:2<165 1990 85 439 https://doi.org/10.1007/BF00193190 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/BF00193190 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Frontali Marina Istituto di Medicina Sperimentale CNR, I-00137, Rome, Italy aut NATIONALLICENCE 700 1- Malaspina Patrizia Dipartimento di Biologia, Università Tor Vergata, I-00173, Rome, Italy aut NATIONALLICENCE 700 1- Rossi Carla Dipartimento di Matematica, Università Tor Vergata, I-00173, Rome, Italy aut NATIONALLICENCE 700 1- Jacopini Anna Istituto di Psicologia, CNR, I-00137, Rome, Italy aut NATIONALLICENCE 700 1- Vivona Giuseppa Dipartimento Sanitá e Biologia Cellulare, Università Tor Vergata, I-00173, Rome, Italy aut NATIONALLICENCE 700 1- Pergola Mariano Regione Lazio, USL RM1, I-00185, Rome, Italy aut NATIONALLICENCE 700 1- Palena Antonella Dipartimento di Biologia, Università Tor Vergata, I-00173, Rome, Italy aut NATIONALLICENCE 700 1- Novelletto Andrea Dipartimento di Biologia, Università Tor Vergata, I-00173, Rome, Italy aut NATIONALLICENCE 773 0- Human Genetics Springer-Verlag 85/2(1990-07-01), 165-170 0340-6717 85:2<165 1990 85 439 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer