Autosomal dominant polycystic kidney disease and alpha -4.2 thalassemia in a Caucasian family.
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.
INSERM U129, U15, 24, Paris, France.
M C
MC
Vinet
C
C
Dodé
O
O
Pascal
N
N
Monnier
J
J
Rochette
L
L
Bachner
D002872:Chromosome Deletion; D002885:Chromosomes, Human, Pair 16 / Q000648:ultrastructure*; D015342:DNA Probes; D005260:Female; D005799:Genes, Dominant; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D010375:Pedigree; D007690:Polycystic Kidney Diseases / Q000150:complications / Q000235:genetics*; D013789:Thalassemia / Q000150:complications / Q000235:genetics*
D015342:DNA Probes