Detection kit for fragile X syndrome

Abstract

The invention relates to a fragile X syndrome detection kit, which achieves the effects of high detection speed and high accuracy. According to the technical scheme, the fragile X syndrome detection kit is provided and comprises a primer group, PCR reaction liquid, Taq enzyme, a fragile X syndrome standard substance and a negative control sample; the primer group comprises a first primer pair for amplifying a region containing a CGG repeated region, a 5'flanking region and a 3 'flanking region, a first primer combination for amplifying the region containing the CGG repeated region and the 5' flanking region, and a second primer combination for amplifying the region containing the CGG repeated region and the 3 'flanking region. The kit disclosed by the invention is used for rapidly screening the CGG repetition number of the fragile X syndrome site FMR1 in a large sample size including male and female, and the method can be applied to fragile X genetic detection, prenatal diagnosis and pre-embryo implantation diagnosis. The kit has the advantages of rapidness, high throughput, small sample size, low price, simplicity in operation and easiness in use.

Description

technical field [0001] The invention relates to the technical field of biochemistry, in particular to a detection kit for fragile X syndrome. Background technique [0002] Fragile X syndrome (fragile X syndrome, FXS) is one of the most common inherited mental retardation diseases, with an incidence of about 1 / 4000 males and 1 / 6000 females (1 / 5000-1 / 8000). second only to Down syndrome. The molecular genetic basis of Fragile X syndrome is the 5' untranslated region (CGG) n trinucleotide repeat of Fragile Xmental retardation gene 1 (Fragile Xmental retardation gene 1, FMR1, OMIM: 309550, located at Xq27.3) Aberrant sequence amplification and methylation of CpG islands in the promoter region, but the relationship between the two is not yet clear. More than 95% of FXS patients are caused by the CGG repeat mechanism, and less than 5% of FXS patients are caused by missense mutations and deletion mutations of the FMR1 gene that affect the normal structure and function of FMRP, res...

AI Technical Summary

Problems solved by technology

Southern blot is the main method for diagnosis, but it may miss the diagnosis of carriers or chimeras with a small number of CGG repeats, and it may be misdiagnosed when the enzymatic digestion is incomplete

Moreover, this method is expensive, time-consuming and laborious, requires a large amount of DNA, has radioactive hazards, and is not suitable for large-scale screening at the grassroots level

[0007] Conventional PCR detection, the detection method is complicated, there are many steps, and the detection accuracy is low, and the clinical reference is low