Evidence of linkage disequilibrium in the Spanish polycystic kidney disease 1 population
Journal Article
·
· American Journal of Human Genetics; (United States)
OSTI ID:6975384
- Institute of Molecular, Oxford (United Kingdom)
- Los Alamos National Lab., NM (United States)
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 a 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. 37 refs., 1 fig., 4 tabs.
- OSTI ID:
- 6975384
- Journal Information:
- American Journal of Human Genetics; (United States), Journal Name: American Journal of Human Genetics; (United States) Vol. 54:5; ISSN AJHGAG; ISSN 0002-9297
- Country of Publication:
- United States
- Language:
- English
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