Product for diagnosing congenital scoliosis and application of product

A scoliosis, congenital technology, applied in the field of medical diagnosis, can solve problems such as the complexity of the genetic mechanism of low-penetrance human CS

Active Publication Date: 2015-02-04
PEKING UNION MEDICAL COLLEGE HOSPITAL CHINESE ACAD OF MEDICAL SCI
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  • Abstract
  • Description
  • Claims
  • Application Information

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Problems solved by technology

In addition, the low penetrance of the 16p11.2 microdeletion in CS also underscores the complexity of the genetic mechanism of CS in humans

Method used

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  • Product for diagnosing congenital scoliosis and application of product
  • Product for diagnosing congenital scoliosis and application of product
  • Product for diagnosing congenital scoliosis and application of product

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0053] Example 1 Detection of chromosome 16p11.2 microdeletion

[0054] 1. Blood sampling and genomic DNA extraction:

[0055] All subjects used vacuum EDTA anticoagulation tube to collect 5ml of fasting peripheral venous blood in the morning, centrifuged at 3000rpm / min for 10min, and separated plasma, white blood cell layer and red blood cell. If possible, use lymphocyte separation solution to further extract granulocytes. If unconditional, the white blood cell layer can be directly divided into 2ml cryotubes and stored at -80℃ for later use.

[0056] Use phenol-chloroform method to extract genomic DNA, use ultraviolet spectrophotometry (260 / 280 ratio) to determine DNA purity, OD 260 Determine the DNA concentration, and store it at -20°C for use after unified standardization. Specific steps are as follows:

[0057] (1) Transfer the white blood cell suspension into a 5ml centrifuge tube, add the hemolysis reagent, shake and mix well, centrifuge at 4000rpm / min for 10min, discard the ...

Embodiment 2

[0074] Example 2 Detection of mutations in TBX6 gene

[0075] The common mechanism of nucleotide deletion-related diseases is haplotype insufficiency. For example, the existence of only one key gene copy is not sufficient for the physiological needs of individuals. Considering that the lack of a single dose of TBX6 is a factor in the occurrence of CS, it can be considered that other factors that can lead to the lack of a single dose of the TBX6 gene may also cause the occurrence of CS. Gene mutation is a common factor that causes disease. Next, DNA sequencing of TBX6 gene will be performed to investigate whether the mutation exists.

[0076] 1. Gene amplification

[0077] The entire TBX6 gene coding region and nearly 1kb upstream regulatory region of 149 unrelated CS patients without 16p11.2 microdeletion and 166 randomly selected normal people were amplified. The primer sequence was: forward primer 5'- TAGGGAGAGGGCTCTGTTCTCATGG-3'; reverse primer 5'-GCGTCCCAGGGAGGCAACCG-3'. The P...

Embodiment 3

[0087] Example 3 Repeated detection of chromosome 16p11.2 microdeletion and mutation of TBX6 gene

[0088] 1. Duplicate detection of chromosome 16p11.2 microdeletion

[0089] Participants: 76 unrelated Chinese Han people with congenital scoliosis.

[0090] Method: Same as Example 1.

[0091] Results: Of the 76 unrelated Chinese Han people with congenital scoliosis, 5 of the genomes had chromosome 16p11.2 microdeletion ( figure 1 The last 5 kinds of deletion).

[0092] 2. Repeat detection of TBX6 gene mutation

[0093] Participants: 71 unrelated Han Chinese with congenital scoliosis and no microdeletion of chromosome 16p11.2.

[0094] Method: Same as in Example 2.

[0095] Results: One of 71 Chinese Han people with congenital scoliosis and no relatives and no microdeletion of chromosome 16p11.2 had a double nucleotide deletion, that is, a deletion of AG at C1179 ( figure 2 Shown in E).

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Abstract

The invention discloses a product for diagnosing congenital scoliosis. According to the product, the judgment is carried by detecting whether a chromosome 16p11.2 is micro-deleted or the TBX6 gene frameshift mutation exists and according to the haplotypes of two SNP sites of rs3809624-rs3809627 in a TBX6 gene on another homologous chromosome. The diagnostic kit is sensitive and can be used for diagnosing the congenital scoliosis in early stage.

Description

Technical field [0001] The invention belongs to the field of medical diagnosis, and relates to a product for diagnosing diseases and its application, in particular to a product for congenital scoliosis and its application. Background technique [0002] Array-comparative genomic hybridization (Array-CGH) is a high-throughput analysis technology developed on the basis of traditional CGH. This technology uses BAC cloned DNA or oligonucleotides to make a microarray instead of using metaphase chromosomes as a hybridization target in traditional CGH detection, which not only improves the resolution, but also provides precise positioning. At the same time, each chromosome can be identified by computer software, which overcomes the limitation of requiring experienced personnel to identify chromosomes, and provides an ideal method for rapid and comprehensive analysis of DNA copy number changes and chromosome instability detection. This technology extracts genomic DNA from tissue cells an...

Claims

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): C12Q1/68
CPCC12Q1/6883C12Q2600/156C12Q2600/158C12Q2600/16
Inventor 吴南刘嘉琦刘森吴志宏邱贵兴
Owner PEKING UNION MEDICAL COLLEGE HOSPITAL CHINESE ACAD OF MEDICAL SCI
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