Fragile X syndrome FMR1 gene detection primer, kit and detection method

Abstract

The invention relates to a fragile X syndrome FMR1 gene detection primer, a kit and a detection method. The fragile X syndrome FMR1 gene detection primer comprises the specific primers F1 and F2 for amplifying the FMR1 gene 5' non-coding region, wherein the nucleotide sequence of the specific primers F1 and F2 is shown by SEQ ID No. 1-2; and the primer F3 for amplifying the CGG repeat region, wherein the nucleotide sequence of the primer F3 is shown by SEQ ID No. 3. The fragile X syndrome FMR1 gene detection kit can solve the problem that the long FMR1 gene fragment cannot be amplified due tohigh CG content, and the sensitivity of the fragile X syndrome FMR1 gene detection kit is 875 times of that of the Southern hybridization.

Description

technical field [0001] The invention relates to gene detection technology, in particular to a detection primer, kit and detection method for fragile X syndrome FMR1 gene. 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 of Fragile X mental retardation gene 1 (Fragile X mental retardation gene 1, FMR1, OMIM: 309550, located at Xq27.3) Abnormal expansion of repetitive sequences 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 ...

AI Technical Summary

Problems solved by technology

[0017] The technical problem to be solved by the present invention is to provide a detection primer for Fragile X syndrome FMR1 gene, which can distinguish female homozygotes and heterozygotes, and solve the problem that conventional PCR methods cannot distinguish homozygotes and heterozygotes;

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