[CITATION][C] Genetic Heterogeneity of Polycystic Kidney Disease in Europe1

DJM Peters, LA Sandkuijl - Polycystic kidney disease, 1992 - karger.com
DJM Peters, LA Sandkuijl
Polycystic kidney disease, 1992karger.com
Cyst formation in the kidneys may have several causes, such as inherited disease,
congenital malformation, exposure to toxic chemicals and/or chronic intermittent
hemodialysis [Gardner and Bernstein, 1990). The commonest form of renal cyst formation in
man is autosomal-dominant polycystic kidney disease (ADPKD)[Zerres et al., 1984], with an
estimated occurrence of 1 in 1,000 in the European population. In most families the mutation
responsible for ADPKD is located on the short arm of chromosome 16, close to the gene …
Cyst formation in the kidneys may have several causes, such as inherited disease, congenital malformation, exposure to toxic chemicals and/or chronic intermittent hemodialysis [Gardner and Bernstein, 1990). The commonest form of renal cyst formation in man is autosomal-dominant polycystic kidney disease (ADPKD)[Zerres et al., 1984], with an estimated occurrence of 1 in 1,000 in the European population. In most families the mutation responsible for ADPKD is located on the short arm of chromosome 16, close to the gene coding for the-chain of hemoglobin [Reeders et al., 1985]. The locus on chromosome 16 involved in ADPKD is designated as PKD1. A detailed genetic map of the PKD1 region has been constructed with a large number of DNA markers [Breu-
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