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. 1994 May;54(5):899–908.

Evidence of linkage disequilibrium in the Spanish polycystic kidney disease I population.

B Peral 1, C J Ward 1, J L San Millán 1, S Thomas 1, R L Stallings 1, F Moreno 1, P C Harris 1
PMCID: PMC1918265  PMID: 7909986

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.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

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