Autosomal dominant polycystic kidney disease

A linkage evaluation of heterogeneity in Italy

P. Mandich, G. Restagno, G. Novelli, E. Bellone, L. Potenza, O. Varetto, B. Dallapiccola, A. Carbonara, F. Ajmar

Research output: Contribution to journalArticle

5 Citations (Scopus)

Abstract

A survey of 29 families with Adult Polycystic Kidney Disease (ADPKD) was performed to evaluate the genetic heterogeneity of the disease in Italy. The approach was through the linkage between the disease and 2 polymorphic DNA fragments as detected by the probes 3'HVR and 24.1. Linkage between the polymorphic markers and the disease was confirmed, with the following lod scores: between 3'HVR and ADPKD1 = 12.974 at θ 0.02; between 24.1 and ADPKD = 1.716 at θ = 0.07; between 3'HVR and 24.1 = 2.738 at θ = 0.09. No evidence of significant genetic heterogeneity in the examined Italian regions was detected.

Original languageEnglish
Pages (from-to)579-581
Number of pages3
JournalAmerican Journal of Medical Genetics
Volume35
Issue number4
Publication statusPublished - 1990

Fingerprint

Autosomal Dominant Polycystic Kidney
Genetic Heterogeneity
Italy
Lod Score
Inborn Genetic Diseases
DNA
Surveys and Questionnaires

Keywords

  • ADPKD

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

Mandich, P., Restagno, G., Novelli, G., Bellone, E., Potenza, L., Varetto, O., ... Ajmar, F. (1990). Autosomal dominant polycystic kidney disease: A linkage evaluation of heterogeneity in Italy. American Journal of Medical Genetics, 35(4), 579-581.

Autosomal dominant polycystic kidney disease : A linkage evaluation of heterogeneity in Italy. / Mandich, P.; Restagno, G.; Novelli, G.; Bellone, E.; Potenza, L.; Varetto, O.; Dallapiccola, B.; Carbonara, A.; Ajmar, F.

In: American Journal of Medical Genetics, Vol. 35, No. 4, 1990, p. 579-581.

Research output: Contribution to journalArticle

Mandich, P, Restagno, G, Novelli, G, Bellone, E, Potenza, L, Varetto, O, Dallapiccola, B, Carbonara, A & Ajmar, F 1990, 'Autosomal dominant polycystic kidney disease: A linkage evaluation of heterogeneity in Italy', American Journal of Medical Genetics, vol. 35, no. 4, pp. 579-581.
Mandich P, Restagno G, Novelli G, Bellone E, Potenza L, Varetto O et al. Autosomal dominant polycystic kidney disease: A linkage evaluation of heterogeneity in Italy. American Journal of Medical Genetics. 1990;35(4):579-581.
Mandich, P. ; Restagno, G. ; Novelli, G. ; Bellone, E. ; Potenza, L. ; Varetto, O. ; Dallapiccola, B. ; Carbonara, A. ; Ajmar, F. / Autosomal dominant polycystic kidney disease : A linkage evaluation of heterogeneity in Italy. In: American Journal of Medical Genetics. 1990 ; Vol. 35, No. 4. pp. 579-581.
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