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Updated: Aug 14, 2026

Spectral Karyotyping to Study Chromosome Abnormalities in Humans and Mice with Polycystic Kidney Disease
Published on: February 3, 2012
[Autosomal dominant polycystic kidney and genetic markers of chromosome 16]
C Ferec1, B Bourbigot, P Simon
1Laboratoire de Biologie Moléculaire, Centre Départemental de Transfusion Sanguine, Centre Hospitalier Universitaire, Brest.
Abstract:
The mutation for autosomal dominant polycystic kidney disease (APKD) has been mapped by linkage analysis on the distal part of the short arm of chromosome 16. We present in this study the results of linkage analysis using the two most tightly linked DNA markers (3'HVR and 24-1) in 183 members of 14 families of a same ethnic origin. We have constructed haplotypes using these two polymorphic probes, and compared the frequency of these on the normal and the affected chromosome. No evidence of linkage heterogeneity was found in our population.
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