Cookies on this website
We use cookies to ensure that we give you the best experience on our website. If you click 'Continue' we'll assume that you are happy to receive all cookies and you won't see this message again. Click 'Find out more' for information on how to change your cookie settings.
Skip to main content

An area of 500 kb at the proximal end of the polycystic kidney disease 1 (PKD1) region has been mapped in detail, with 260 kb cloned in cosmids. The area cloned from normal individuals contains two homologous but divergent regions each of 75 kb, including the previously described marker 26-6. Pulsed-field gel electrophoresis identified a duplication of 75 kb of this region, referred to as the OX duplication (OXdup), in three patients with PKD1. The OXdup probably arose by an unequal exchange promoted by misalignment of partially homologous areas. Study of the OXdup in a large PKD1 family showed that it segregated with PKD1 in just one-half of the family, indicating that a recent crossover had occurred between the OXdup and PKD1 and showing that it was not a PKD1 mutation. Further analysis identified an OXdup breakpoint fragment: the OXdup was subsequently identified in 2 normal individuals of 110 assayed. The finding of the OXdup and in other individuals an 11-kb deletion (OXdel) at a similar point within this duplicated area indicates that this is an unusually unstable genomic region.

Original publication

DOI

10.1006/geno.1994.1507

Type

Journal article

Journal

Genomics

Publication Date

15/09/1994

Volume

23

Pages

321 - 330

Keywords

Chromosome Mapping, Chromosomes, Human, Pair 16, Cloning, Molecular, Cosmids, DNA, Electrophoresis, Gel, Pulsed-Field, Female, Gene Rearrangement, Genetic Markers, Humans, In Situ Hybridization, Fluorescence, Male, Multigene Family, Pedigree, Polycystic Kidney, Autosomal Dominant, Polymorphism, Genetic, Recombination, Genetic