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A novel mutation of kfs pathogenic gene and its application

A genotype and locus technology, applied in the field of biomedicine, can solve problems such as family and social burden, lack of early prediction methods, and failure to improve other system abnormalities, and achieve good early intervention time and rapid and effective early diagnosis.

Active Publication Date: 2022-03-25
PEKING UNION MEDICAL COLLEGE HOSPITAL CHINESE ACAD OF MEDICAL SCI
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

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Problems solved by technology

[0003] KFS is often associated with a variety of congenital diseases and other systemic malformations. The symptoms of nerve compression in patients can range from radiculopathy to limb paralysis and death. It can also cause serious physical and mental problems, causing a great burden on the family and society.
[0004] At present, due to the lack of early prediction methods, KFS patients are mostly discovered when the cervical spine is severely deformed. The treatment method can only control the progression of cervical spine deformity through braces or surgical correction, but it cannot improve the deformity of other systems.

Method used

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  • A novel mutation of kfs pathogenic gene and its application

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0029] Example 1 Extraction and Purification of Peripheral Blood DNA

[0030] 1. Sample collection

[0031] Blood samples were collected from sporadic KFS patients admitted to the Department of Orthopedics of Peking Union Medical College Hospital from January 2016 to March 2019. A total of 38 cases were collected. Among the KFS patients, there were 20 males and 18 females. The oldest age at diagnosis was 45 years old, and the youngest age was 6 years old. The average age is 14.7 years. All KFS patients were diagnosed by X-ray cervical anteroposterior and lateral, neck CT or MRI plain scan, and their common feature was fusion deformity caused by cervical vertebral body formation disorder or malsegmentation.

[0032] 2. Extraction of DNA

[0033] Among the 38 eligible KFS patients and 15 healthy controls mentioned above, the age balance of the two groups was comparable.

[0034] The specific steps are:

[0035] (1) Add hemolysis reagent (i.e. lysate, 40 parts) to the periphe...

Embodiment 2

[0042] Example 2 Whole Exome Sequencing

[0043] The two groups of people in Example 1 were detected by the whole exome chip to obtain relevant results.

[0044] 1. Library construction

[0045] Beijing Novogene Technology Co., Ltd. uses Agilent's liquid-phase chip capture system to efficiently enrich human DNA from the entire exon region, and then perform high-throughput and high-depth sequencing on the Illumina Hiseq platform. The Agilent SureSelect Human All ExonV5 kit was used for library construction and capture experiments, the reagents and consumables recommended in the instructions were strictly used, and the operation was performed according to the latest optimized experimental procedures.

[0046] The basic process of the experiment: Genomic DNA was randomly broken into fragments with a length of 180-280bp by a Covaris crusher, and after end repair and A-tailing, adapters were connected to both ends of the fragments to prepare a DNA library. After pooling, the libr...

Embodiment 3

[0059] Example 3 Utilize the risk score method to further analyze the risk of SNP and KFS

[0060] By comparing the genotype distribution frequencies of the two groups of samples ("KFS case group" and "healthy control group"), the inventors selected positively associated SNPs, and took the single SNP regression coefficient in the whole exome scanning sample as the weight, and further The risk score was obtained, and ROC was drawn to evaluate the sensitivity and specificity of diagnosis, and then the ability of these SNPs to judge the onset of KFS was diagnosed. The analysis of SNP markers found that the sensitivity and specificity of the SNP mutation located in the VANGL1 gene reached more than 65%.

[0061] Thus, the inventors demonstrated that the locus markers are able to distinguish well between healthy controls and KFS patients.

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Abstract

The invention discloses the SNP mutation site of the VANGL1 gene related to KFS, and provides a reagent for detecting the genotype of the VANGL1 susceptible SNP site. Further, the invention discloses a kit for auxiliary diagnosis of KFS. The invention screens the SNP sites of KFS-related susceptibility genes and provides its application in KFS diagnosis, expounds the influence of SNPs on the progress of KFS, and reveals its value in diagnosis and treatment. Therefore, the present invention can develop a test kit and a biological preparation that utilizes the SNP genotype to detect the diagnosis of KFS, which can not only quickly and effectively achieve early diagnosis, but also greatly improve its accuracy, and provide clinical applications such as gene therapy and drug therapy. The therapeutic targets and important basis are provided.

Description

technical field [0001] The invention relates to the technical field of biomedicine, in particular to a novel mutation of a KFS pathogenic gene and its application. Background technique [0002] Congenital cervical fusion deformity (Klippel-Feil Syndrome, KFS) is a congenital cervical vertebral developmental deformity, the incidence rate is about 1 / 40000-1 / 42000, its clinical typical features are: short and thick neck, posterior Low threshold and limited neck movement; but less than 50% of patients have three manifestations at the same time. [0003] KFS is often associated with a variety of congenital diseases and other systemic malformations. Symptoms of nerve compression can range from radiculopathy to limb paralysis and death. It can also cause serious physical and mental problems and impose a great burden on the family and society. [0004] At present, due to the lack of early prediction methods, KFS patients are mostly discovered when they have severe cervical spine de...

Claims

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Application Information

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Patent Type & Authority Patents(China)
IPC IPC(8): C12Q1/6883C12N15/11
CPCC12Q1/6883C12Q2600/156
Inventor 李子全赵森蔡思逸吴南吴志宏王以朋
Owner PEKING UNION MEDICAL COLLEGE HOSPITAL CHINESE ACAD OF MEDICAL SCI
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