Primer and kit for detecting dominant hereditary cerebral artery disease related gene and application

Abstract

The invention provides a primer pair, a primer and kit for detecting a dominant hereditary cerebral artery disease related gene and application. The primer pair consists of a forward primer provided with a sequence shown by SEQIDNo.1 or its sequence and a reverse primer provided with a sequence shown in SEQIDNo.2 or its homologous sequence. The primer is applicable to detection of autosomal dominant genetic disease cerebral arteries (CADASIL) related genes of subcortical infarcts and leukoencephalopathy and judgment whether the p.C201Y loci of a NOTCH3 gene mutates or not, and a reference is provided for clinical diagnosis.

Description

technical field [0001] The invention relates to a detection technology of disease-related genes, in particular to a primer for detecting CADASIL-related genes, a detection kit and its application. Background technique [0002] Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leucoencephalopathy (CADASIL) is a relatively rare small artery disease that occurs in adults and is inherited in a dominant manner Vascular disease. Patients often have cerebral infarction or transient ischemic attack caused by cerebrovascular occlusion, dementia, migraine with aura, and mental problems (Chinese Journal of Stroke, 2010, 5(7), 573-8). [0003] Studies have found that the mutation of the NOTCH3 gene located in the region of chromosome 19p13.1-13.2 is the pathogenic cause of the disease. NOTCH3 has 33 exons, and the mutations related to pathogenicity are concentrated in exons 2-24. In the Asian population, the mutation rate of exon 4 is the highest, accounting for ...

AI Technical Summary

Problems solved by technology

[0005] In clinical cases, there are still patients who cannot be diagnosed based on the above techniques

Images