Gene mutation type and gene sequencing method

Abstract

The present invention relates to CADASIL related gene mutation types and detecting method. The gene mutation types include: the mutation of codon 134 in exon Exon4 from TGC to TAC, the mutation of codon 141 in exon Exon4 from CGC to TGC, the mutation of codon 90 in exon Exon3 from CGT to TGT, the mutation of codon 117 in exon Exon4 from TGC to CGC, the mutation of codon 169 in exon Exon4 from CGC to TGC, and the mutation of codon 182 in exon Exon4 from CGC to TGC. The gene sequencing process includes the steps of: providing DNA sample, designing primers for 22 exons, selecting 10 mutant hot points for exon PCR amplification, performing nucleotide analysis in DHPLC technology, performing gene sequencing on DHPLC positive samples to determine gene type, performing other exon PCR amplification on DHPLC negative samples, performing KHPLC detection, and performing gene sequencing on DHPLC positive samples.

Description

technical field [0001] The present invention relates to a gene and a detection method thereof, in particular to a detection method of a gene mutation type and a mutation site of autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy CADASIL, In particular, it relates to the detection method of gene mutation type and mutation site of Chinese CADASIL disease. Background technique [0002] Cerebrovascular disease is a common and frequently-occurring disease of the nervous system. It is one of the three major causes of death in human diseases. Among the survivors, 50% to 70% of patients are left with severe disabilities such as paralysis and aphasia, which brings heavy burdens to society and families. burden. In recent years, the onset of stroke tends to be younger. People pay more and more attention to the role of genetic factors in stroke. CADASIL, as one of the causes of cerebral infarction in middle-aged and young people, has gradually become the ...

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Problems solved by technology

[0010] The first CADASIL family was reported in China in 2000. At present, there is only one family study on Chinese CADASIL disease, and there is a lack of molecular biology research on multiple Chinese CADASIL family patients

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