Kit for detecting fragile X syndrome

Abstract

The invention relates to a kit for detecting the fragile X syndrome in a clinical sample, in particular to a kit for screening the fragile X syndrome through the technology of hydrosulfite-modified long fragment polymerase chain reaction. The extended range of the kit can contain the fragile X syndromes of all the normal persons, patients with fragile X syndrome premutation and part of patients with fragile X syndrome full mutation. The kit is characterized by short analysis time, high flux and less required cells, and can be used to analyze the DNAs of father and mother and can also be used in the embryo preimplantation gender diagnosis.

Description

technical field

[0001] The invention relates to a kit for detecting fragile X syndrome in clinical samples, in particular to a kit for screening fragile X syndrome by bisulfite modification-long fragment polymerase chain reaction technology. Background technique

[0002] Fragile X syndrome (FraX) is a common hereditary mental retardation syndrome, its incidence is second only to Down syndrome, it is X-linked inheritance, accounting for 40% of X-linked mental retardation. The incidence rate is 1 / 4000 in males and 1 / 6000 in females. Penetrance also varies by gender, 80% for men and 30% for women. Fragile X syndrome has two major characteristics in terms of phenotype: one is mild to severe mental retardation, IQ value between 20-60, accompanied by different degrees of abnormal body shape; big head, square forehead, big ears , Large mandible, most male patients develop large testicles after puberty, and have a clear family history of sex-linked mental retardation. The second ...

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