FMR1 (fragile x mental retardation 1) gene CGG repetition number and methylation detection kit and detection method

Abstract

The invention discloses an FMR1 (fragile x mental retardation 1) gene CGG repetition number and methylation detection kit and a detection method. The detection kit comprises a restriction enzyme, a magnetic bead and a capture probe. The restriction enzyme is used for enzyme digestion of genome DNA of a sample, the magnetic bead is connected with a first modification group, the capture probe is connected with a second modification group, and the second modification group is used for connecting the first modification group so as to couple the magnetic bead and the capture probe. The capture probe coupled with the magnetic bead is used for specifically binding to a DNA fragment subjected to enzyme digestion. The detection kit and the detection method are simple and convenient to operate, accurate in interpretation and easy to clinically apply and popularize.

Description

technical field

[0001] The invention relates to the technical field of gene detection, in particular to a FMR1 gene CGG repeat number and methylation detection kit and detection method. Background technique

[0002] The FMR1 gene is located on the X chromosome and is 38kb in length. The 5' untranslated region of the FMR1 gene contains CGG repeats. The repeat number of the CGG repeat sequence is polymorphic, and the repeat number may vary among different people. According to the number of CGG repeats, the researchers divided the FMR1 gene into four genotypes, namely wild type (CGG repeat number <45), intermediate type (CGG repeat number 45-54), pre-mutant type (CGG repeat number 55 ~200) and full mutants (CGG repeats >200). The CGG repeat number of normal people is below 45. Pre-mutation carriers (mostly males) have a certain possibility of suffering from Fragile X-associated tremor / ataxia syndrome (FXTAS), and women have a certain possibility of suffering from FXPO...

Images