Rapid detection kit for fragile X syndrome

Abstract

The invention discloses a rapid detection kit for a fragile X syndrome. The rapid detection kit for the fragile X syndrome has the technical scheme of (1) designing an upstream primer and a downstream primer in a 5' untranslated region (a CGG repeat region) of an FMR-1 (Fragile X Mental Retardation-1) gene; (2) mixing the upstream primer, the downstream primer with high-fidelity enzyme, 10*PCR (Polymerase Chain Reaction) buffer and the like, and carrying out PCR amplification; (3) carrying out agarose electrophoresis on an amplification product, and judging the approximate copy number of CGG through judging the magnitude of fragments of the amplification product, thus judging whether a detector is a patient suffering from the fragile X syndrome or a carrier carrying the fragile X syndrome or not, wherein the fragments of the amplification product of a normal person are less than 300bp, and if the amplification product of which the fragments are greater than 700bp exists, the person is a pre-mutator or a complete mutator. In a detection method of the invention, the design difficulty of used primers is low, and the synthesis cost of the primers is reduced to a large extent; through a judgment result of an agarose electrophoresis method, the detection cost is further reduced, and the clinical practicability is greatly increased.

Description

technical field [0001] The invention relates to the field of biotechnology, in particular to a rapid detection kit for fragile X syndrome. Background technique [0002] Fragile X syndrome leads to mental retardation in patients (Martin-Bell syndrome), which is an X-linked recessive genetic disease whose clinical manifestations are mainly mental retardation. Translated region (CGG) n trinucleotide repeat abnormal transmission caused by. The (CGG) repeat copy number of normal people is about 30 copies (90bp), while the repeat copy number of female carriers and normal male passers is increased to 150~500bp, which is called pre-mutation, and the adjacent CpG island is not covered by A Kylation, this premutation (premutation) has no or only mild symptoms. The transformation from pre-mutation to full mutation only occurs during the transmission from mother to offspring: the CGG region of female carriers is unstable, which will lead to the increase of female carriers and male pat...

AI Technical Summary

Problems solved by technology

[0004] In order to reduce the incidence of Fragile X Syndrome, based on the understanding of the DNA sequence of the fragile site, methods such as RFLP linkage analysis, DNA hybridization analysis, and real-time fluorescent quantitative PCR amplification can now be used to detect the disease-causing gene. , or time-consuming and other reasons limit its application

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