The invention relates to a
fluorescence quantitative PCR detection kit for beta-
thalassemia mutation. The kit comprises a PCR mixing reaction liquid, a
positive control and
fluorescence probes for detecting beta-
thalassemia mutation genotype, wherein the PCR mixing reaction liquid contains PCR primers for amplifying a
gene fragment on which a
mutation site is positioned, and the mutation site is at least one mutation site selected from
deletion mutation of a base corresponding to the site 41 / 42
amino acid of beta-
globin gene, C-to-T mutation of a base corresponding to the site 654
amino acid of the second
intron of beta-
globin gene, A-to-T mutation of a base corresponding to the site 17
amino acid of beta-
globin gene, A-to-G mutation of a base corresponding to the site 28 amino acid on the upstream of the
promoter of beta-
globin gene, A base
insertion mutation of a base corresponding to the site 71 / 72 amino acid of beta-
globin gene, and G-to-C mutation of a base corresponding to the site 5 amino acid of the first
intron of beta-
globin gene. With the technical scheme of the present invention, rapid, accurate and high sensitivity detection of mutation conditions of beta-
thalassemia gene can be achieved, and especially 6 special site mutations of beta-thalassemia gene can be detected, wherein the 6 special site mutations are common in Chinese.