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. 1989 Aug;83(1):55-7.
doi: 10.1007/BF00274148.

Autosomal dominant polycystic kidney disease and alpha -4.2 thalassemia in a Caucasian family

M C Vinet  1 , C Dodé, O Pascal, N Monnier, J Rochette, L Bachner
Affiliations

Autosomal dominant polycystic kidney disease and alpha -4.2 thalassemia in a Caucasian family

M C Vinet et al. Hum Genet. 1989 Aug.

Abstract

We describe the first known association between autosomal dominant polycystic kidney disease (ADPKD) and alpha-4.2 thalassemia in a Caucasian family. Linkage studies have been carried out using two probes (3'HVR and 24-1) linked to ADPKD on locus PKD1 and two probes (alpha 1-PstI and BamH-I/EcoRI-zeta 2 fragment) allowing detection of alpha-thalassemia with either a 3.7-kb deletion or a 4.2-kb deletion. Our results show that to avoid misinterpretation it is important to investigate the occurrence of an alpha-gene deletion when polymorphisms situated in the alpha-globin locus are used for linkage studies on ADPKD. The studied family is one of the rare cases of leftward deletional thalassemia described in a non-Asian population.

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