Phenylketonuria PAH gene detection kit

The invention discloses a phenylketonuria PAH gene detection kit, and relates to the technical field of gene detection. The kit includes a reagent for detecting polymorphic sites; and the polymorphicsites at least include one of c.611A>G, c.728G>A, c.1068C>A, c.1238G>C, c.442-1G>A, c.1197A>T, c.721C>T and c.331C>T. The PAH gene detection kit provides the allele-specific scorpion primers and shared primers thereof of eight common mutation sites for detecting PAH genes, so that a joint detection platform can be constructed, synchronous joint detection can be realized, detection specificity canbe enhanced, costs can be reduced, and detection time can be shortened; and the kit has important significance on carrying out the screening, genetic counseling and prenatal diagnosis of people with phenylketonuria. 本发明公开了一种苯丙酮尿症PAH基因检测试剂盒，涉及基因检测技术领域；所述试剂盒包括用于检测多态性位点的试剂，所述多态性位点至少包括以下位点之一：c.611A>G；c.728G>A；c.1068C>A；c.1238G>C；c.442-1G>A；c.1197A>T；c.721C>T和c.331C>T。该PAH基因检测试剂盒提供了用于检测PAH基因的8个常见突变位点的等位基因特异性蝎形引物及其共用引物，构建了一个联合检测