Article
Identification and detection of the common 65-kb deletion breakpoint in the nephropathic cystinosis gene (CTNS).
Molecular genetics and metabolism - 1 Feb 1999
Anikster Y, Lucero C, Touchman J W, Huizing M, McDowell G, Shotelersuk V, Green E D, Gahl W A
Abstract excerpt
The most common mutation in the cystinosis gene, CTNS, is a 65-kb deletion thought to have originated in Germany. Although homozygotes for this deletion are detectable by the absence of the D17S829 polymorphic marker, no method exists to identify heterozygotes. We identified the 65-kb deletion breakpoints and used flanking PCR primers to amplify a 423-bp fragment present only in the deletion alleles. Using this...
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