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Low-density lipoprotein receptor gene mutant and application thereof

A low-density lipoprotein and receptor gene technology, applied in the field of biomedicine, can solve the problems of reduced compliance, time-consuming, and reduced blood lipid control rate, so as to improve compliance, reduce disease burden, and treat familial high cholesterol. effect of blood

Pending Publication Date: 2022-04-05
XIEHE HOSPITAL ATTACHED TO TONGJI MEDICAL COLLEGE HUAZHONG SCI & TECH UNIV
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Problems solved by technology

However, such a process will reduce the compliance rate and compliance of patients' blood lipid control
In addition, there are also treatment plans that suggest that patients undergo whole-exome sequencing to determine the relevant mutation sites of the disease at a high cost, and then re-determine the treatment plan, but this method is time-consuming and expensive

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  • Low-density lipoprotein receptor gene mutant and application thereof

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Embodiment 1

[0022] In this example, a gene mutation site is obtained through next-generation sequencing, MLPA detection and sanger sequencing. 11088862:11134420:1), involving homozygous deletion mutations in LDLR exons 2-8, specifically, in the low-density lipoprotein receptor gene, exons 1-18 correspond to SEQ ID NO. 1-18. The nucleotide sequence shown, the mutation found in the present invention is the complete deletion of exons 2-8 of the gene.

[0023] The present invention found this gene mutation site in the process of research on patients with familial hypercholesterolemia, and the specific detection results are as follows: figure 1 As shown, it was verified by MLPA, exome sequencing, and next-generation sequencing. The fluorescence signal in the figure is considered to be normal between 0.7-1.3. The present invention also found that patients with this mutation site (patients with deletion of exons 2-8), and patients who have been diagnosed with familial hypercholesterolemia, use...

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Abstract

The invention relates to the technical field of biomedicine, in particular to a low-density lipoprotein receptor gene mutant and application thereof. The mutant is characterized in that exons 2-8 of a low-density lipoprotein receptor gene are deleted. The application is to detect whether a patient contains the genetic mutation site; if the detection result is lack, determining that the lipid-lowering scheme is to use lipid-lowering drugs in combination with blood lipid adsorption treatment. Large-fragment deletion mutation on a low-density lipoprotein receptor gene is found, and for a patient with the mutation, an existing injection lipid-lowering drug PCSK9 inhibitor is ineffective. And a corresponding lipid-lowering scheme is provided based on the research, so that the compliance of the patient can be improved, the disease burden of the patient can be reduced, and atherosclerotic cardiovascular diseases such as coronary heart disease can be effectively prevented by controlling the LDL level as early as possible.

Description

technical field [0001] The invention relates to the technical field of biomedicine, in particular to a low-density lipoprotein receptor gene mutant and its application. Background technique [0002] Familial hypercholesterolemia (FH) is a rare autosomal dominant disorder with familial features that may lead to various life-threatening cardiovascular complications. [0003] The current recommended treatment plan for familial hypercholesterolemia recommends that patients give priority to statins. If blood lipid control cannot reach the target, add ezetimibe. If the target still cannot be controlled, add PCSK9 inhibitor. If the target cannot be reached, it will be recommended to start blood lipid adsorption therapy. However, such a process will reduce the compliance rate and compliance of patients with blood lipid control. In addition, there are also treatment plans that recommend patients to perform whole-exome sequencing, which costs a lot of money to determine the relevant...

Claims

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Application Information

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IPC IPC(8): C12N15/12C07K14/705C12Q1/6883
Inventor 程翔聂少芳查灵凤谢天魏宇淼董江涛唐婷婷夏霓焦佼李静勇
Owner XIEHE HOSPITAL ATTACHED TO TONGJI MEDICAL COLLEGE HUAZHONG SCI & TECH UNIV
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