title: Haplotype analysis in autosomal dominant polycystic kidney disease.
abstract: Haplotype analysis was performed in 35 autosomal dominant polycystic kidney disease (ADPKD) families typed with 13 markers close to the PKD1 locus. The identification of recombinants close to the PKD1 gene on chromosome 16p indicates that PKD1 lies between CMM65 distally and 26-6 proximally. In addition, three unlinked (PKD2) families and two families with potential new mutation were identified.
authors.affiliation: MRC Human Genetics Unit, Western General Hospital, Edinburgh, UK.
authors.forename: S E
authors.initials: SE
authors.lastname: Pound
authors.forename: S
authors.initials: S
authors.lastname: Thomas
authors.forename: A
authors.initials: A
authors.lastname: Snarey
authors.forename: A M
authors.initials: AM
authors.lastname: Macnicol
authors.forename: M L
authors.initials: ML
authors.lastname: Watson
authors.forename: P M
authors.initials: PM
authors.lastname: Pignatelli
authors.forename: A M
authors.initials: AM
authors.lastname: Frischauf
authors.forename: P C
authors.initials: PC
authors.lastname: Harris
authors.forename: A F
authors.initials: AF
authors.lastname: Wright
mesh_terms: D000328:Adult; D000368:Aged; D002885:Chromosomes, Human, Pair 16; D005260:Female; D008040:Genetic Linkage; D005819:Genetic Markers; D006239:Haplotypes / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D016891:Polycystic Kidney, Autosomal Dominant / Q000235:genetics*; D011506:Proteins / Q000235:genetics; D050396:TRPP Cation Channels
chemical_list: D005819:Genetic Markers; D011506:Proteins; D050396:TRPP Cation Channels