首页> 外国专利> PRIMER, PROBE, MICROARRAY FOR DETECTING MUTATION OF EYS GENE, DETECTION KIT HAVING THE SAME, TEST METHOD FOR GENETIC MUTATION RESPONSIBLE FOR RETINITIS PIGMENTOSA AND TEST METHOD FOR GENETIC SENSITIVITY TO RETINITIS PIGMENTOSA

PRIMER, PROBE, MICROARRAY FOR DETECTING MUTATION OF EYS GENE, DETECTION KIT HAVING THE SAME, TEST METHOD FOR GENETIC MUTATION RESPONSIBLE FOR RETINITIS PIGMENTOSA AND TEST METHOD FOR GENETIC SENSITIVITY TO RETINITIS PIGMENTOSA

机译:底漆,探针,微阵列,用于检测EY基因的突变,检测工具具有相同的特征,对皮下色素负责的遗传突变测试方法和对皮下色素变性的遗传敏感性测试方法

摘要

PROBLEM TO BE SOLVED: To provide a primer, probe, microarray for detecting mutation of c.4957-4958InsA, a novel genetic mutation of a gene EYS responsible for retinitis pigmentosa (RP), a test kit having the same, a test method for genetic mutation responsible for RP, and a test method for genetic sensitivity to RP.SOLUTION: Presence or absence of c.4957-4958InsA mutation in the EYS gene is tested in a DNA-containing sample collected from a retinitis pigmentosa patient by using the primer, probe and microarray which can detect c.4957-4958InsA mutation in the EYS gene.
机译:解决的问题:提供用于检测c.4957-4958InsA突变的引物,探针,微阵列,c.4957-4958InsA是负责色素性视网膜炎(RP)的EYS基因的新遗传突变,具有该基因的测试试剂盒,用于检测解决方案:通过使用引物对从视网膜色素变性患者收集的含DNA样品中的EYS基因中是否存在c.4957-4958InsA突变进行了测试,探针和微阵列,可以检测EYS基因中的c.4957-4958InsA突变。

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