Genetic linkage analysis and presymptomatic testing in Huntington's disease. First report in Italy.
Since 1979 data about Huntington's Disease (HD) in Campania, a region of Southern Italy, has been collecting. The prevalence of HD in this sample is 30.3 x 10(-6) (115 pedigrees, 1470 individuals). Mean age at onset was 38.67 years and the juvenile (onset before 20 years) accounted for 5.8%. Genetic linkage analysis in 4 unrelated pedigrees with D4S10 and D4S95 DNA probes has been performed. The absence of genetic heterogeneity--already proposed in a cooperative study for one pedigree--has been confirmed in this study.
Di Maio
L
L
II Facoltà di Medicina, Clinica Neurologica II, Università degli studi di Napoli.
Boiano
S
S
Squitieri
F
F
Napolitano
G
G
Cocozza
S
S
Campanella
G
G
Battistuzzi
G
G
D000328:Adult; D000367:Age Factors; D000483:Alleles; D002894:Chromosomes, Human, Pair 4; D004247:DNA / Q000235:genetics; D015342:DNA Probes; D005787:Gene Frequency; D006580:Genetic Carrier Screening; D005819:Genetic Markers; D005820:Genetic Testing; D006801:Humans; D006816:Huntington Disease / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics*; D015994:Incidence; D007558:Italy / Q000453:epidemiology; D008126:Lod Score; D010375:Pedigree; D012150:Polymorphism, Restriction Fragment Length; D015995:Prevalence; D012306:Risk
D015342:DNA Probes; D005819:Genetic Markers; D004247:DNA