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Literature DB >> 2142473

Epidemiological and linkage studies on Huntington's disease in Italy.

M Frontali¹, P Malaspina, C Rossi, A G Jacopini, G Vivona, M S Pergola, A Palena, A Novelletto.

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.

Entities: Disease Species

Mesh：

Year: 1990 PMID： 2142473 DOI： 10.1007/bf00193190

Source DB: PubMed Journal: Hum Genet ISSN： 0340-6717 Impact factor: 4.132

23 in total

1. Studies of a DNA marker (G8) genetically linked to Huntington disease in British families.

Authors: S Youngman; M Sarfarazi; O W Quarrell; P M Conneally; K Gibbons; P S Harper; D J Shaw; R E Tanzi; M R Wallace; J F Gusella
Journal: Hum Genet Date: 1986-08 Impact factor: 4.132

2. Isolation of DNA markers in the direction of the Huntington disease gene from the G8 locus.

Authors: B Smith; D Skarecky; U Bengtsson; R E Magenis; N Carpenter; J J Wasmuth
Journal: Am J Hum Genet Date: 1988-02 Impact factor: 11.025

3. Estimation of the recombination fraction in human pedigrees: efficient computation of the likelihood for human linkage studies.

Authors: J Ott
Journal: Am J Hum Genet Date: 1974-09 Impact factor: 11.025

4. Factors influencing age at onset and duration of survival in Huntington's chorea.

Authors: R G Newcombe; D A Walker; P S Harper
Journal: Ann Hum Genet Date: 1981-10 Impact factor: 1.670

5. A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity.

Authors: A P Feinberg; B Vogelstein
Journal: Anal Biochem Date: 1983-07-01 Impact factor: 3.365

6. A polymorphic DNA marker genetically linked to Huntington's disease.

Authors: J F Gusella; N S Wexler; P M Conneally; S L Naylor; M A Anderson; R E Tanzi; P C Watkins; K Ottina; M R Wallace; A Y Sakaguchi
Journal: Nature Date: 1983 Nov 17-23 Impact factor: 49.962

7. Localization of the Huntington's disease gene to a small segment of chromosome 4 flanked by D4S10 and the telomere.

Authors: T C Gilliam; R E Tanzi; J L Haines; T I Bonner; A G Faryniarz; W J Hobbs; M E MacDonald; S V Cheng; S E Folstein; P M Conneally
Journal: Cell Date: 1987-08-14 Impact factor: 41.582

8. Huntington's Chorea in the Netherlands. The problem of genetic heterogeneity.

Authors: L N Went; M Vegter-van der Vlis; G W Bruyn; W S Volkers
Journal: Ann Hum Genet Date: 1983-07 Impact factor: 1.670

9. Two additional RFLPs at the D4S10 locus, useful for Huntington's disease (HD)-family studies.

Authors: E Bakker; M I Skraastad; Y M Fisser-Groen; G J van Ommen; P L Pearson
Journal: Nucleic Acids Res Date: 1987-11-11 Impact factor: 16.971

10. Molecular characterisation of a hypervariable region downstream of the human alpha-globin gene cluster.

Authors: A P Jarman; R D Nicholls; D J Weatherall; J B Clegg; D R Higgs
Journal: EMBO J Date: 1986-08 Impact factor: 11.598

7 in total

1. Predictive testing for Huntington's disease: ten years' experience in two Italian centres.

Authors: P Mandich; G Jacopini; E Di Maria; G Sabbadini; G Abbruzzese; F Chimirri; E Bellone; A Novelletto; F Ajmar; M Frontali
Journal: Ital J Neurol Sci Date: 1998-04

2. DNA analysis of Huntington's disease in southern Chinese.

Authors: V Chan; Y L Yu; T P Chan; B Yip; C M Chang; M T Wong; Y W Chan; T K Chan
Journal: J Med Genet Date: 1995-02 Impact factor: 6.318

Review 3. The epidemiology of Huntington's disease.

Authors: P S Harper
Journal: Hum Genet Date: 1992-06 Impact factor: 4.132

4. Genetic linkage between Huntington disease and the D4S10 locus in South African families: further evidence against non-allelic heterogeneity.

Authors: L J Greenberg; R W Martell; J Theilman; M R Hayden; J Joubert
Journal: Hum Genet Date: 1991-10 Impact factor: 4.132