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

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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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 great harm to the families of sick children. With the financial crisis and the subsequent social burden, children may encounter various problems in feeding, speaking, hearing and social interaction. Although a series of sequential treatments including surgery, it is difficult to achieve complete normality. Degree

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