23-06-2023 дата публикации
Номер: CN116287198A
Принадлежит:
The invention relates to a primer group, a kit and a method for detecting various disease-related gene mutation types. According to the invention, genetic deafness, thalassemia and spinal muscular atrophy related gene mutation types can be detected at the same time, clinical common known pathogenic SNP, INDEL and copy number variation can be detected at the same time only through one tube and one experiment, and the detection efficiency of the three diseases and the standardization degree of clinical detection are remarkably improved. The primer group comprises: 1) primers for detecting a gene mutation type of hereditary hearing loss as shown in SEQ ID NO: 1-30; (2) a primer for detecting the gene mutation type of thalassemia, wherein the primer is shown as SEQ ID NO: 31-340; 3) primers for detecting the gene mutation type of the spinal muscular atrophy, wherein the primers are shown as SEQ ID NO: 341-350; and 4) primers for detecting the beta-actin housekeeping gene, wherein the primers ...
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