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Point Mutations. Point mutations are the most common type of gene mutation. Also called a base-pair substitution, this type of mutation changes a single nucleotide base pair.
A primer set, a kit and a method for detecting a plurality of disease-related gene mutation types
The application relates to a primer group, a kit and a method for detecting a plurality of disease-related gene mutation types. The application can simultaneously detect genetic deafness, thalassemia and spinal muscular atrophy disease-related gene mutation types, only needs one tube, and can simultaneously detect clinically common known pathogenic SNPs, INDELs and copy number variations in one experiment, thereby significantly improving the detection efficiency of the three diseases and the standardization degree of clinical detection. The primer group comprises: 1) a primer for detecting genetic deafness gene mutation types, as shown in SEQ ID NO: 1-30; 2) a primer for detecting thalassemia gene mutation types, as shown in SEQ ID NO: 31-340; 3) a primer for detecting spinal muscular atrophy gene mutation types, as shown in SEQ ID NO: 341-350; and 4) a primer for detecting a beta-actin housekeeping gene, as shown in SEQ ID NO: 351-352.
Owner:PINFENG (JIANGSU) MEDICAL TECHNOLOGY CO LTD