A SECOND GENETIC LOCUS FOR AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE

G. Romeo, G. Costa, L. Catizone, G. G. Germino, D. J. Weatherall, M. Devoto, L. Roncuzzi, P. Zucchelli, T. Keith, S. T. Reeders

Research output: Contribution to journalArticle

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Abstract

Hitherto, mutations that lead to autosomal dominant adult-type polycystic kidney disease have been found to be linked to the alpha-globin genes on the short arm of chromosome 16. In an Italian family, absence of linkage between the disease mutation and alpha-globin indicates that the condition can be caused by mutations in a second gene. The clinical features of the disease in this Italian family are indistinguishable from those found in the "linked" families. The finding that there are two polycystic kidney disease genes means that linkage must be demonstrated independently in each family before predictive tests with DNA probes can be used reliably.

Original languageEnglish
Pages (from-to)8-11
Number of pages4
JournalLancet
Volume332
Issue number8601
DOIs
Publication statusPublished - Jul 2 1988

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Autosomal Dominant Polycystic Kidney
Genetic Loci
alpha-Globins
Mutation
Genes
Chromosomes, Human, Pair 16
Polycystic Kidney Diseases
DNA Probes

ASJC Scopus subject areas

  • Medicine(all)

Cite this

Romeo, G., Costa, G., Catizone, L., Germino, G. G., Weatherall, D. J., Devoto, M., ... Reeders, S. T. (1988). A SECOND GENETIC LOCUS FOR AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE. Lancet, 332(8601), 8-11. https://doi.org/10.1016/S0140-6736(88)92943-1

A SECOND GENETIC LOCUS FOR AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE. / Romeo, G.; Costa, G.; Catizone, L.; Germino, G. G.; Weatherall, D. J.; Devoto, M.; Roncuzzi, L.; Zucchelli, P.; Keith, T.; Reeders, S. T.

In: Lancet, Vol. 332, No. 8601, 02.07.1988, p. 8-11.

Research output: Contribution to journalArticle

Romeo, G, Costa, G, Catizone, L, Germino, GG, Weatherall, DJ, Devoto, M, Roncuzzi, L, Zucchelli, P, Keith, T & Reeders, ST 1988, 'A SECOND GENETIC LOCUS FOR AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE', Lancet, vol. 332, no. 8601, pp. 8-11. https://doi.org/10.1016/S0140-6736(88)92943-1
Romeo G, Costa G, Catizone L, Germino GG, Weatherall DJ, Devoto M et al. A SECOND GENETIC LOCUS FOR AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE. Lancet. 1988 Jul 2;332(8601):8-11. https://doi.org/10.1016/S0140-6736(88)92943-1
Romeo, G. ; Costa, G. ; Catizone, L. ; Germino, G. G. ; Weatherall, D. J. ; Devoto, M. ; Roncuzzi, L. ; Zucchelli, P. ; Keith, T. ; Reeders, S. T. / A SECOND GENETIC LOCUS FOR AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE. In: Lancet. 1988 ; Vol. 332, No. 8601. pp. 8-11.
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