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Missense mutation affecting human inherited arrhythmogenic disease auxiliary diagnosis and clinical intervention and application of missense mutation

A technology for arrhythmia and missense mutations, applied in the field of missense mutations, can solve problems that have not been used as targets for the prevention and treatment of arrhythmias, and achieve the effect of preventing the spread of arrhythmias, good application prospects, and reliable specificity

Pending Publication Date: 2019-12-06
THE FIRST AFFILIATED HOSPITAL OF ZHENGZHOU UNIV
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

However, the currently recognized arrhythmia-causing gene mutations are only aimed at the discovered hotspot mutations, and there are still some mutations that have not been used as targets for the prevention and treatment of arrhythmias.

Method used

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  • Missense mutation affecting human inherited arrhythmogenic disease auxiliary diagnosis and clinical intervention and application of missense mutation
  • Missense mutation affecting human inherited arrhythmogenic disease auxiliary diagnosis and clinical intervention and application of missense mutation
  • Missense mutation affecting human inherited arrhythmogenic disease auxiliary diagnosis and clinical intervention and application of missense mutation

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0038] Example 1 Disease correlation of mutation sites

[0039] 1. DNA extraction and whole exome sequencing

[0040] Take 200 microliters of whole blood samples, use the extraction method to extract the whole genome DNA, and use Nanodrop2000 to detect the quality and concentration of DNA. The ratio of A260 / 280 is 1.8-2.0, and the ratio of A260 / 230 wallpaper is 1.7-1.9. Finally, the qualified DNA samples were uniformly diluted to 100 ng / μl. Perform high-throughput sequencing on qualified DNA samples to obtain relevant gene mutation information.

[0041] 2. ACMG genetic variation classification analysis:

[0042]The mutation was a de novo mutation in the subject, and no family history (PS2) was verified by both parents. The variant is located in the calcium binding critical domain (PM1) of the encoded protein. This variation has not been reported in the literature and has not been included in known reference databases. This variation does not belong to polymorphic changes ...

Embodiment 2

[0045] Example 2 Detection method of mutation site

[0046] 1. Amplification of a target fragment containing a missense mutation site in a gene significantly associated with the onset of human arrhythmia.

[0047] The target fragment is a 784bp nucleotide sequence on the third exon of the CALM2 gene, and the upstream and downstream primers for sequence amplification are:

[0048] The upstream primer PCR-F is: 5'-GTGACAGAGGAGCCAGTCATTT-3' (SEQ ID NO.2)

[0049] The downstream primer PCR-R is: 5'-TTTAACATATCCAGTCCTTGACGTA-3' (SEQ ID NO.3)

[0050] Concentration: 100μmol / L

[0051] 2) System preparation:

[0052]

[0053] 3) Reaction procedure:

[0054]

[0055] 3. DNA sequence sequencing identification: sequence sequencing was performed on 3730xlDNAAnalyzer (ABI Company). The measured sequence was compared with the NCBI genome sequence to obtain the genotype corresponding to the single nucleotide site. The sequencing results are as follows:

[0056] GTGACAGAGGAGCCAG...

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Abstract

The invention belongs to the field of molecular biotechnology and molecular genetics and particularly relates to a missense mutation affecting human inherited arrhythmogenic disease auxiliary diagnosis and clinical intervention and application of the missense mutation. A mutation site of the missense mutation affecting the human inherited arrhythmogenic disease auxiliary diagnosis and prognosis corresponds to the 89th nucleotide site C>G in a human CALM2 gene coding region and is named as c.C89G. The invention further provides a primer for identifying the missense mutation and discloses a purpose of the primer for identifying the missense mutation in human inherited arrhythmogenic disease auxiliary diagnosis and clinical intervention and a method of identifying the missense mutation for human inherited arrhythmogenic disease prenatal diagnosis. The missense mutation has the advantages that the missense mutation provides a new treatment target for preventing and treating inherited arrhythmia and a powerful molecular biology tool to early diagnosis and prognosis judgment of inherited arrhythmia as well as has a profound clinical significance and an important popularization prospect.

Description

technical field [0001] The invention belongs to the technical fields of molecular biotechnology and molecular markers, and in particular relates to a missense mutation affecting auxiliary diagnosis and clinical intervention of human hereditary arrhythmia diseases and its application. Background technique [0002] Hereditary arrhythmia, also known as hereditary ion channelopathy, refers to the origin of cardiac activity and (or) conduction disorders leading to abnormal heart beat frequency and (or) rhythm. This disease is a common type of hereditary cardiovascular disease, mainly It is caused by abnormal function caused by gene mutations involved in cell electrophysiological functions such as ion channels. Arrhythmia can affect important organs such as the heart, brain, and kidneys, and can be life-threatening in severe cases. The clinical manifestations of arrhythmia depend on the nature, type, and heart function of the arrhythmia. For example, mild sinus arrhythmia has lit...

Claims

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Application Information

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IPC IPC(8): C12Q1/6883C12N15/11
CPCC12Q1/6883C12Q2600/156
Inventor 刘刚琼张金盈王楚楚赵晓燕董建增
Owner THE FIRST AFFILIATED HOSPITAL OF ZHENGZHOU UNIV
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