title: Evidence of linkage disequilibrium in the Spanish polycystic kidney disease I population.
abstract: Forty-one Spanish families with polycystic kidney disease 1 (PKD1) were studied for evidence of linkage disequilibrium between the disease locus and six closely linked markers. Four of these loci--three highly polymorphic microsatellites (SM6, CW3, and CW2) and an RFLP marker (BLu24)--are described for the first time in this report. Overall the results reveal many different haplotypes on the disease-carrying chromosome, suggesting a variety of independent PKD1 mutations. However, linkage disequilibrium was found between BLu24 and PKD1, and this was corroborated by haplotype analysis including the microsatellite polymorphisms. From this analysis a group of closely related haplotypes, consisting of four markers, was found on 40% of PKD1 chromosomes, although markers flanking this homogeneous region showed greater variability. This study has highlighted an interesting subpopulation of Spanish PKD1 chromosomes, many of which have a common origin, that may be useful for localizing the PKD1 locus more precisely.
authors.affiliation: MRC Molecular Haematology Unit, Institute of Molecular Medicine, Headington, Oxford, United Kingdom.
authors.forename: B
authors.initials: B
authors.lastname: Peral
authors.forename: C J
authors.initials: CJ
authors.lastname: Ward
authors.forename: J L
authors.initials: JL
authors.lastname: San Millán
authors.forename: S
authors.initials: S
authors.lastname: Thomas
authors.forename: R L
authors.initials: RL
authors.lastname: Stallings
authors.forename: F
authors.initials: F
authors.lastname: Moreno
authors.forename: P C
authors.initials: PC
authors.lastname: Harris
mesh_terms: D000483:Alleles; D001483:Base Sequence; D002874:Chromosome Mapping; D002885:Chromosomes, Human, Pair 16; D017931:DNA Primers; D004276:DNA, Satellite / Q000032:analysis; D005819:Genetic Markers; D014644:Genetic Variation; D006239:Haplotypes; D006801:Humans; D015810:Linkage Disequilibrium; D008969:Molecular Sequence Data; D016891:Polycystic Kidney, Autosomal Dominant / Q000175:diagnosis / Q000235:genetics*; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D012091:Repetitive Sequences, Nucleic Acid; D013030:Spain
chemical_list: D017931:DNA Primers; D004276:DNA, Satellite; D005819:Genetic Markers