DRD (Dope-Reactive Dystonia)-related gene mutation and detecting method and usage thereof

Abstract

The invention belongs to the field of molecular pathology and particularly relates to a DRD (Dope-Reactive Dystonia)-related gene mutation, in particular to two mutant types of a DRD-related TH (Tyrosine hydroxylase) gene.

Description

technical field [0001] The invention belongs to the field of molecular pathology, and particularly relates to gene mutations related to dopa-responsive dystonia. Background technique [0002] In 1976, dopa responsive dystonia (dopa responsive dystonia, DRD) was first reported by Segawa et al., known as hereditary progressive dystonia with marked diurnal fluctuation (HPD) ) or Segawa disease (Segawa M, Hosaka A, Miyagawa F, et al. Hereditary progressive dystonia with marked dimalfluctuation. Adv Neuro, 1976, 14: 215-233.). DRD is a rare genetic movement disorder that often occurs in children or adolescents, with dystonia or abnormal gait as the first symptom, and the incidence is about 0.5-1 case per million people (Segawa M, Nomura Y, Nishiyama N. Autosomal dominant guanosine triphosphatecyclohydrolase I deficiency (Segawa disease). Ann Neurol 2003:54(Suppl6):S32–45.). [0003] Most DRDs are autosomal dominant (autosomal dominan, AD), and the causative gene is guanosine tr...

AI Technical Summary

Problems solved by technology

Among the mutations in exons, except for the 1493A→G mutation of exon 14, which leads to amino acid changes in the TH tetramer region, the rest of the mutations all lead to amino acid changes at different positions in the TH catalytic region. The function has different degrees of influence. The 24T→A mutation in the branch point sequence of the 11th intron can cause the initiation of other branch point sequences, resulting in TH Pre-mRNA splicing errors, resulting in wrong mRNA, resulting in the entire genetic information change

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