Application of NOTCH3 and JAG2 gene SNP ((Single Nucleotide Polymorphism)) loci

A gene and site technology, applied in the use of SNP sites of NOTCH3 and JAG2 genes and related kits, can solve the problems of patients with upper respiratory tract infection, affect development, induce otitis media, etc., and achieve the effect of good sensitivity

Inactive Publication Date: 2014-02-19
谢小冬
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Problems solved by technology

It not only seriously affects the patient's facial appearance, but also directly affects the development of the mouth and nasal cavity, often causing upper respiratory tract infection in patients, and can induce otitis media, which has a serious impact on the physical and mental health of patients, and will bring

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  • Application of NOTCH3 and JAG2 gene SNP ((Single Nucleotide Polymorphism)) loci
  • Application of NOTCH3 and JAG2 gene SNP ((Single Nucleotide Polymorphism)) loci
  • Application of NOTCH3 and JAG2 gene SNP ((Single Nucleotide Polymorphism)) loci

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[0042] Below in conjunction with specific embodiment, further illustrate the present invention. These examples are only for illustrating the present invention and are not intended to limit the scope of the present invention. For the experimental methods without specific conditions indicated in the following examples, usually follow the conventional conditions or the conditions suggested by the manufacturer. Unless otherwise defined, all professional and scientific terms used herein have the same meanings as commonly understood by those skilled in the art. In addition, any methods and materials similar or equivalent to those described can be applied to the method of the present invention. The preferred implementation methods and materials described herein are for demonstration purposes only.

[0043] Materials and related reagents used in this example are as follows:

[0044] 1. Experimental materials

[0045] 1.1 Instruments used

[0046]

[0047]

[0048] 1.2 Reage...

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Abstract

The invention belongs to the field of bio-medical technology, and specifically relates to an application of NOTCH3 and JAG2 gene SNP loci, as well as a kit and a detection method thereof. The application of NOTCH3 and JAG2 gene SNP loci in preparation of a detection kit for diagnosing analogous cleft lip and palate susceptibility is disclosed. The invention discovers that SNP locus rs12082 on NOTCH3 gene and two SNP loci (rs741859, rs2238286) on JAG2 gene are correlated with non-syndromic cleft lip and palate for the first time. Therefore, on that basis, a method and a kit for detecting non-syndromic cleft lip and palate susceptible risk through SNP are provided, moreover, clinic experimental study verifies that the detection method is feasible, and the detection kit provided by the invention has better sensitivity, stability and specificity. The detection kit provided by the invention can be used for cleft lip and palate susceptibility screening for normal people, and can effectively play a role in risk early warning and early diagnosis.

Description

technical field [0001] The invention belongs to the technical field of biomedicine, and specifically relates to the use of SNP sites of NOTCH3 and JAG2 genes and related kits. Background technique [0002] Cleft Lip and / or Palate (CL / P) is one of the major craniofacial developmental deformities, representing a common class of non-fatal birth defects with complex etiology and genetic heterogeneity. According to the existing data, the incidence rate of cleft lip and palate in the world is about 3.4-22.9 / 10000. The incidence rate in China is about: 1.82 / 1000. It not only seriously affects the patient's facial appearance, but also directly affects the development of the mouth and nasal cavity, often causing upper respiratory tract infection in patients, and can induce otitis media, which has a serious impact on the physical and mental health of patients, and will bring great harm to the families of sick children. With the financial crisis and the subsequent social burden, chil...

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Application Information

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IPC IPC(8): C12Q1/68
CPCC12Q1/6883C12Q2600/156
Inventor 谢小冬苏刚李培强吴骅李炯张婷婷
Owner 谢小冬
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