A genetic detection kit for congenital axenfeld–rieger syndrome

Abstract

The invention relates to a congenital Axenfeld-Rieger syndrome gene detection kit, a whole novel locus of PITX2 gene closely related with congenital Axenfeld-Rieger syndrome, i.e., c.77delA is changed, deletion of adenine base refers to congenital Axenfeld-Rieger syndrome susceptible population. The congenital Axenfeld-Rieger syndrome gene detection kit employs the locus to detect the congenital Axenfeld-Rieger syndrome, and brings great conveniences for gene diagnosis work of congenital Axenfeld-Rieger syndrome disease. The congenital Axenfeld-Rieger syndrome gene detection kit can fast detect the congenital Axenfeld-Rieger syndrome, and provides the genetic locus of gene diagnosis, gene treatment and antenatal diagnosis for Axenfeld-Rieger syndrome family members.

Description

technical field [0001] The invention relates to a gene detection kit, in particular to a gene detection kit for congenital Axenfeld-Rieger syndrome, which belongs to the field of biotechnology. Background technique [0002] Axenfeld-Rieger syndrome (ARS) is a rare autosomal dominant genetic disorder with an incidence of 1:200,000. Its main clinical symptoms are: [0003] cornea [0004] The typical change is the corneal posterior embryonic ring, that is, the Schwalbe line proliferates and moves forward. From the front of the cornea or with a slit lamp microscope, there is a white line or ring near the corneal limbus behind the cornea, which is limited to a certain part (temporal side most common) or a 360° retrocorneal embryonic ring is seen in 8% to 15% of the general population. There are also a small number of patients without the posterior embryonic ring of the cornea but with other ocular and systemic abnormalities of the syndrome. Except for changes in the peripher...

AI Technical Summary

Problems solved by technology

[0014] At present, there is no uniform detection method in the world for the detection of congenital Axenfeld–Rieger syndrome

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