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MARKER DNA POLYMERASE DELTA 1 (POLD1) FOR DIAGNOSING SENSORINEURAL DEAFNESS, AND USE THEREOF

机译:诊断敏感型神经性耳聋的MARKER DNA聚合酶DELTA 1(POLD1)及其用途

摘要

The present invention relates to a marker DNA polymerase delta 1 (POLD1) for diagnosing sensorineural deafness, and a use thereof. Specifically, the present invention relates to a kit for diagnosing sensorineural deafness comprising a polynucleotide including a continuous nucleotide sequences selected from nucleotide sequences in an exon region of a POLD1 gene or a complementary polynucleotide thereof, in an attempt to detect mutation in the POLD1 gene. The present invention further relates to a diagnostic composition, and a method for detecting mutation in genomic DNA to provide diagnostic information. According to one aspect of the present invention, by using the kit or the composition, it is possible to analyze mutation in the POLD1 gene with high sensitivity and accuracy, thereby enabling efficient diagnosis of sensorineural deafness based on the analyzed outcome.
机译:本发明涉及用于诊断感音神经性耳聋的标记DNA聚合酶δ1(POLD1)及其用途。具体地,本发明涉及一种用于诊断感觉神经性耳聋的试剂盒,其包括多核苷酸,该多核苷酸包括选自POLD1基因的外显子区域中的核苷酸序列的连续核苷酸序列或其互补多核苷酸,以试图检测POLD1基因中的突变。本发明进一步涉及诊断组合物和用于检测基因组DNA中的突变以提供诊断信息的方法。根据本发明的一方面,通过使用试剂盒或组合物,可以以高灵敏度和准确度分析POLD1基因中的突变,从而能够基于分析结果有效诊断感音神经性耳聋。

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