Susceptible SNP site of NTN1 gene and application thereof

A locus and gene technology, applied in the field of genetic engineering and auxiliary diagnosis of birth defects

Inactive Publication Date: 2017-07-28
AFFILIATED STOMATOLOGICAL HOSPITAL OF NANJING MEDICAL UNIV
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

At present, the research on NTN1 gene and NSOC susceptibility is still in its infancy at home and abroad, but according to the results of immunofluorescence staining, it is found that NTN1 protein is highly expressed

Method used

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  • Susceptible SNP site of NTN1 gene and application thereof
  • Susceptible SNP site of NTN1 gene and application thereof
  • Susceptible SNP site of NTN1 gene and application thereof

Examples

Experimental program
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Effect test

Embodiment 1

[0035] According to the GWAS study of the Chinese Han population, rs4791774 was found to be located in the intron region of the NTN1 gene. In order to further screen functional sites, LD analysis was carried out on the upstream and downstream 200 kb of rs4791774 according to the Hapmap database, and it was found that rs4791331 (r 2 =0.99), rs9891446 (r 2 =0.85) is highly linked with it ( figure 1 ). Among them, rs4791331 is completely linked to rs4791774. We used RegulomeDB to predict its function, and found that rs4791774 scored 4 (no binding), rs4791331 scored 2b (may affect binding), and rs9891446 had no prediction results. Using F-SNP prediction, the score of rs4791774 was 0.192, the score of rs4791331 was 0.714, and the score of rs9891446 was 0.5. The higher the score, the more likely the site has functional significance. Based on the functional prediction results of the two softwares, rs4791331 may be the functional site of this region, and its C>T mutation can chang...

Embodiment 2

[0039]Example 2 Association between rs4791331 locus and genetic risk of non-syndromic cleft lip and palate

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Abstract

The patent is a susceptible SNP site of an NTN1 gene and an application thereof and discloses a genotype of an SNP marker rs4791331 related to assisted diagnosis of non-syndromic cleft lip and palate. Two alleles exist: T and C, wherein the allele T is a risk allele and an application of the allele T in a diagnostic kit for non-syndromic cleft lip and palate is developed. The invention is conductive to comprehensively evaluating the effect of heritable variation in genesis and development and lapse of NSCO of Chinese Han populations and has important meaning in guiding NSOC high risk groups to prevent and screen.

Description

technical field [0001] The invention belongs to the field of genetic engineering and auxiliary diagnosis of birth defects, and relates to NTN1 gene rs4791331 mutation and its application in auxiliary diagnosis of non-syndromic cleft lip and palate. Background technique [0002] Non-syndromic cleft lip and palate (nonsyndromicorofacial cleft, NSOC) is a common congenital craniofacial developmental abnormality without other systemic organ abnormalities. It is one of the most common congenital malformations in humans. The incidence of cleft lip and palate varies with ethnicity, region and socioeconomic status, and is about 1 / 1000-1 / 500. According to reports, the incidence rate of NSCL / P in my country is as high as 0.142‰, ranking the second among all kinds of birth defects in newborns, and it is one of the five major causes of neonatal death. Non-syndromic cleft lip and palate not only affects the oral function of the children, but also poses a major hazard to the children's ...

Claims

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Application Information

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IPC IPC(8): C12Q1/68C12N15/11
CPCC12Q1/6883C12Q2600/156
Inventor 潘永初李丹丹马兰王林
Owner AFFILIATED STOMATOLOGICAL HOSPITAL OF NANJING MEDICAL UNIV
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