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- W1991909491 abstract "In the above referenced article, the restriction digest we reported to test the CEPH control patients does not correctly identify the disease-causing variant. To address this mistake, we have screened 160 CEPH control chromosomes by DHPLC and direct sequencing. In brief, we amplified the EYA4 gene using gene-specific primers as described previously [Wayne et al., 2001] ((forward, 50-cttcaagcatggtaacaagc-3 (intron 14)0; reverse, 50-gtgcaaaactccacagcc-30 (exon 15))). A standard PCR protocol was used with Tm1⁄4 538C. All amplicons were pooled post-PCR and heteroduplexes were formed by denaturing at 958C for 5 min in a thermal cycler and cooling at a rate of 18C/min to room temperature. DHPLC analysis of each amplicon was performed at three different temperatures. The analysis was conducted using Navigator Software (Transgenomic, Omaha, NE) to estimate optimal temperature, run time, and acetonitrile gradient. The best predicted temperature was then bracketed by 28C to optimize sensitivity. In addition, direct sequencing was completed with a BigDye v3.1 Terminator Cycle Sequencing Kit (Applied Biosystems, Foster City, CA). Sequenced products were read using an ABI 3730s Sequencer (PerkinElmer, Waltham, MA), and chromatograms were compared to published cDNA sequence using Sequencher v4.5 (Gene Code Corp., Ann Arbor, MI). The ca. 1282-12T>A alteration was not observed in any control 160 chromosomes. These data support our conclusion that the variant we have reported is a disease-causing allele for DFNA10." @default.
- W1991909491 created "2016-06-24" @default.
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- W1991909491 date "2008-01-01" @default.
- W1991909491 modified "2023-09-26" @default.
- W1991909491 title "A novel splice site mutation in EYA4 causes DFNA10 hearing loss (Am J Med Genet 143(14): 1599–1604)" @default.
- W1991909491 cites W2150683921 @default.
- W1991909491 doi "https://doi.org/10.1002/ajmg.a.32134" @default.
- W1991909491 hasPublicationYear "2008" @default.
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