Characterization of the <i>GCNT2</i> deletion responsible for congenital cataracts in PKCC215.
<p><b>A</b>) Model of chromosome 6 indicating the placement of the primer pairs in the PCR amplification of the <i>GCNT2</i> region. Visualization (on a 1.5% agarose gel) of the amplification products from each primer pair with the DNA of <b>B</b>) an unaffected and <b>C</b>) affected member of PKCC215. Amplification of the genomic DNA of the affected individual was successful (produced specific PCR products) with the primer pairs indicated in green. Amplification of the affected individual’s DNA failed (non-specific or no PCR products) with the primer pairs indicated in red. Note: Asterisk indicates non-specific PCR products.</p
Cell Biology, Genetics, Science Policy, Biological Sciences not elsewhere classified, arCC, Whole-exome sequencing libraries, chromosome 6 p 24, whole-exome data analysis, linkage, 5.78. PCR amplifications, cataract, GCNT 2, DNA, GCNT 2 Locus Causes Autosomal Recessive Congenital Cataracts Purpose, GCNT 2 locus, deletion, chromosome 6 p
DOI identifier: 10.1371/journal.pone.0167562.g002
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