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Familial hypercholesterolemia related gene as well as detection kit and application thereof

A technology for hypercholesterolemia and detection kits, which can be used in the determination/examination of microorganisms, biochemical equipment and methods, DNA/RNA fragments, etc., and can solve the problems of inability to explain pathogenic genes in FH patients.

Active Publication Date: 2021-11-19
BEIJING CHAOYANG HOSPITAL CAPITAL MEDICAL UNIV +1
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

However, there are still some FH patients who cannot be explained by known pathogenic genes, suggesting that there are undiscovered pathogenic genes. It is necessary to further explore and improve the data of FH pathogenic genes to improve the accuracy of early detection of FH

Method used

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  • Familial hypercholesterolemia related gene as well as detection kit and application thereof
  • Familial hypercholesterolemia related gene as well as detection kit and application thereof
  • Familial hypercholesterolemia related gene as well as detection kit and application thereof

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0024] Example 1. LDLR gene c.817+1G>C heterozygous mutant gene, kit for detecting LDLR gene c.817+1G>C heterozygous mutant gene in vitro

[0025] This embodiment provides the LDLR gene c.817+1G>C heterozygous mutant gene, the nucleotide sequence of which is shown in SEQ ID NO:1;

[0026] SEQ ID NO: 1ttggctgcgt taatg g / c tgag cgctggccat.

[0027] This embodiment also provides primers for detecting the LDLR gene c.834delG heterozygous deletion mutant gene:

[0028] Forward primer: 5'-GCCTCTCAAAGCAGTTGGAACCAC-3' (SEQ ID NO: 2);

[0029] Reverse primer: 5'-TCACTTGCCCACAGACGCACA-3' (SEQ ID NO:3).

[0030] The embodiment of the present invention provides a kit for in vitro detection of LDLR gene c.817+1G>C heterozygous mutant gene, which kit includes: 1) amplified LDLR gene c.817+1G>C heterozygous mutant gene 2) PCR amplification enzyme; 3) PCR buffer, divalent cation or monovalent cation, hybridization solution. Specifically, the components of the kit for detecting the LDLR ge...

Embodiment 2

[0033] Embodiment 2, the method for in vitro detection whether there are FH-related genes in the sample to be tested

[0034] An embodiment of the present invention provides an in vitro method for detecting whether there is a gene associated with familial hypercholesterolemia in a sample to be tested, the method comprising the following steps:

[0035] 1. Extract the DNA of the sample to be tested, and carry out PCR amplification at the c.817+1G>C site of the LDLR gene; wherein, the sample to be tested is the blood, hair, saliva, hair or live tissue of the individual to be tested. organize;

[0036]Extraction of DNA from a sample can be performed using any known well-established technique. In this embodiment, the DNA extraction of the sample to be tested uses the magnetic bead method whole blood genomic DNA extraction kit (Baishinuo) to carry out the DNA extraction of the sample: add 200 μ l of the sample (serum / whole blood) to the 1st and 7th columns of the 96 deep-well plat...

experiment example 1

[0048] Experimental example 1. Study on the relationship between familial hypercholesterolemia and LDLR gene c.817+1G>C heterozygous mutation

[0049] 1. Subject information, as shown in Table 4 below

[0050] Table 4

[0051]

[0052] Using the detection kit of Example 1 and the detection method of Example 2 of the present invention to detect the LDLR gene of the subject.

[0053] 2. Explanation of test results

[0054] Test results: The subject carried the highly suspicious pathogenic mutation LDLR gene c.817+1G>C heterozygous mutation of familial hypercholesterolemia, which supports the diagnosis of clinical familial hypercholesterolemia.

[0055] Use the detection reagent of the embodiment of the present invention 1 and the detection method of embodiment 2 to detect that the subject carries the LDLR variant gene, as shown in the following table 6 for details:

[0056] Table 6

[0057]

[0058] Note: AD is autosomal dominant inheritance, AR is autosomal recessive ...

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Abstract

The invention discloses a familial hypercholesterolemia related gene and a detection kit and application thereof, and belongs to the diagnostic reagent development technology. The familial hypercholesterolemia related gene is characterized by comprising human LDLR gene c.817+1G>C heterozygous mutation, and the c.817+1G>C heterozygous mutation is located at the 16 basic group position of the nucleotide sequence shown in SEQ ID NO:1; the site can be used as a biomarker for clinical auxiliary diagnosis of familial hypercholesterolemia; by detecting whether a subject carries the variation or not, a carrier of the variation can be detected, prenatal guidance and genetic counseling are provided for the subject, and birth of child patients is reduced; and a possible drug treatment target is provided for human beings to overcome familial hypercholesterolemia, and research and development of innovative drugs are promoted.

Description

technical field [0001] The invention relates to the development of diagnostic reagents, in particular to familial hypercholesterolemia-related genes, detection kits and applications thereof. Background technique [0002] Familial hypercholesterolemia (FH), also known as familial hypercholesterolemia, is clinically characterized by hypercholesterolemia, characteristic xanthomas, and a family history of premature cardiovascular disease. FH is the most common hereditary hyperlipidemia in childhood, and it is also the most serious type of lipid metabolism disease, which can lead to various life-threatening cardiovascular disease complications and is an important risk factor for coronary artery disease . The most characteristic clinical manifestations of this disease are increased blood LDL-C level, xanthoma, corneal arch and premature coronary heart disease. The clinical manifestations of homozygotes are much more severe than those of heterozygotes. The clinical manifestation...

Claims

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Application Information

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IPC IPC(8): C12N15/11C12Q1/6883
CPCC12Q1/6883C12Q2600/156
Inventor 陈牧雷高元丰杨新春王欣董莹杨晓艳曹晔萱付源史琳影张媛梁庆渊赵娜娜朱晓凤赖开生刘昕超侯青刘哲
Owner BEIJING CHAOYANG HOSPITAL CAPITAL MEDICAL UNIV
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