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Novel FBN2 gene mutation marker and application thereof in CCA auxiliary diagnosis

An auxiliary diagnosis and gene technology, applied in the field of molecular biology, can solve the problem of not meeting the diagnostic criteria of CCA

Active Publication Date: 2021-11-30
PEKING UNION MEDICAL COLLEGE HOSPITAL CHINESE ACAD OF MEDICAL SCI
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

For some patients without a clear diagnosis, they often only show some disease characteristics, and the clinical manifestations cannot meet the current diagnostic criteria for CCA. These patients also need genetic testing to assist their further diagnosis, so as to facilitate early treatment

Method used

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  • Novel FBN2 gene mutation marker and application thereof in CCA auxiliary diagnosis
  • Novel FBN2 gene mutation marker and application thereof in CCA auxiliary diagnosis
  • Novel FBN2 gene mutation marker and application thereof in CCA auxiliary diagnosis

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0072] Example 1 Screening of Gene mutations associated with CCA FBN2 embodiment

[0073] 1, study

[0074] Recruited 10 clinical and molecular diagnosis of CCA probands were from Beijing Jishuitan Hospital, Beijing Union Medical College Hospital Hand Surgery and Orthopedics were assessed by two reviewers (LS and YH) by physical examination or X-ray photographs proband those clinical phenotypes, and their families a related investigation, all subjects or their guardians signed an informed consent form, the present study was Beijing Ji Shui Tan hospital review Board approval.

[0075] 2, DNA extraction

[0076] After informed consent, patients and their family members drawn peripheral blood system, dipotassium ethylenediaminetetraacetic acid (EDTA-K2) anticoagulant, according to manufacturer's instructions, using the DNeasy blood / tissue genomic DNA extraction kit (Germany , QIAGEN) to extract DNA, A 260 / A 280 Ratio in the range between 1.8 to 2.0.

[0077] 3, genetic testing

...

Embodiment 2

[0090] Example embodiment were verified by sequencing 2Sanger

[0091] 1, primer design

[0092] Primer 5 employed for PCR primer design software. The primer sequences used are as follows:

[0093] c.3353A> G, c.3350A> G, c.3467G> A with primers

[0094] FBN2-1-F: GTATGGTTTCAAGCTGGCGA (SEQ ID NO: 1)

[0095] FBN2-1-R: TTTTGGCAGTTGGGGAAAGG (SEQ ID NO: 2)

[0096] c.2759G> A with primers

[0097] FBN2-2-F: AGAAGGCCTGCTTATGTACCA (SEQ ID NO: 3)

[0098] FBN2-2-F: GGTAAGAGCTCCCCAACCTT (SEQ ID NO: 4)

[0099] c.3088G> A with primers

[0100] FBN2-3-F: ACCTTTGTAAAATGGCCGCC (SEQ ID NO: 5)

[0101] FBN2-3-R: ACGCTTGACATGTGACTGT (SEQ ID NO: 6)

[0102] 2, Sanger sequencing

[0103] The experimental steps are as follows:

[0104] a) 3 arranged PCR System according to the table;

[0105] Table 3 Gene PCR System

[0106]

[0107] b) PCR reaction conditions shown in Table 4;

[0108] Table 4 FBN2 gene PCR reaction conditions

[0109]

[0110] c) arranged in a 1% agarose gel;

[0111] d) Aft...

Embodiment 3

[0116] Example 3 verification of causative mutations FBN2 CCA by clinical scoring system

[0117] In the present embodiment, in accordance with the subject phenotypic records, is calculated for each subject CCA clinical score, based on the results of the clinical score, pathogenic FBN2 gene according to the present invention was verified, the clinical CCA the ratings Document "Meerschaut I, De Coninck S, Steyaert W, et al.A clinical scoring system forcongenital contractural arachnodactyly [J] .Genetics in Medicine, 2020,22 (1): 124-131." the clinical score reported CCA the system computing.

[0118] 1, experimental method

[0119] Specific scoring criteria in Table 5, score ≥7 points highly suspicious CCA.

[0120] Table 5 CCA clinical score

[0121]

[0122]

[0123] 2, experimental results

[0124] 11 failure patients clinical phenotype evaluation excluded, the remaining 16 patients with clinical phenotype CCA score calculation see Figure 9 , Up to 17 points, 8 points the mi...

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Abstract

The invention discloses a novel FBN2 gene mutation marker and application thereof in CCA auxiliary diagnosis. According to the novel FBN2 gene mutation marker and the application thereof in the CCA auxiliary diagnosis, a whole exome sequencing analysis is carried out on 27 CCA patients of 10 families, it is found that the following rare mutations exist on FBN2: c.3353A > G, c.3350A > G, c.3088G > A, c.2759G > A and c.3467G > A, mutation sites are verified through a CCA clinical scoring system, the accuracy and reliability of the FBN2 gene mutation CCA diagnosis are proved, on one hand, the FBN2 gene mutation is beneficial to explaining the pathogenesis of a CCA patient, on the other hand, the mutation site can be used as a CCA biomarker for diagnosis or auxiliary diagnosis of CCA, assessment of the risk of suffering from CCA and pre-pregnancy early warning.

Description

Technical field [0001] The present invention belongs to the field of molecular biology, involving novel FBN2 gene mutations, specifically, related to new FBN2 gene mutant markers and their applications in CCA auxiliary diagnosis. Background technique [0002] Congenital Contractural ArachNodactYLY, CCA, also known as Beals Hecht Syndrome, BHS, is a rare normally-stained dominant genetic connective tissue disease, clinical diagnosis is based on the following Clinical manifestations: spider-like, wrinkled ear, large joint contracture (including the tume joint, knee, ankle or elbow joint), flexion finger, spinal side convex or spinal rear convex, thoracic deformity, elongated (toe), high arched palate, small jaw, etc. (Jurko A, Krsiakova J, Minarik M, et al.Congenitalcontractural arachnodactyly (Beals-Hecht syndrome): a rare connective tissuedisorder [J] .Wiener klinische Wochenschrift, 2013,125 (9): 288- 290 .; E, Alanay Y.Congenital Contractural ArachNodactYly (Beals Syndrome) [J...

Claims

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Application Information

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IPC IPC(8): C12Q1/6883G01N33/68C12N15/11
CPCC12Q1/6883G01N33/6893C12Q2600/156G01N2800/10G01N2333/47
Inventor 吴南田文吴志宏孙丽颖黄盈棹赵森
Owner PEKING UNION MEDICAL COLLEGE HOSPITAL CHINESE ACAD OF MEDICAL SCI
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