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Non-syndromic cleft lip and palate genetic risk prediction model

A prediction model and genetic risk technology, applied in the field of genetic disease diagnosis, can solve problems such as genetic risk prediction of non-syndromic cleft lip and palate that have not yet been seen in GRS model, and achieve the effect of improving prediction and high accuracy

Pending Publication Date: 2021-02-23
HARBIN MEDICAL UNIVERSITY
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Problems solved by technology

[0005] However, there are no research reports on the application of the GRS model to predict the genetic risk of non-syndromic cleft lip and palate

Method used

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  • Non-syndromic cleft lip and palate genetic risk prediction model
  • Non-syndromic cleft lip and palate genetic risk prediction model
  • Non-syndromic cleft lip and palate genetic risk prediction model

Examples

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Embodiment

[0049]In this example, a non-syndromic cleft lip and palate genetic risk prediction model was constructed according to the following steps:

[0050] 1. Collection of cleft lip and palate samples A total of 71 non-syndromic cleft lip and palate patients, 67 healthy control individuals, and 33 individuals without development-related diseases were included through the Ethics Committee of Harbin Medical University. None of the healthy control individuals had development-related disorders. All individuals included in the study were from northern China. Peripheral blood samples were collected from all subjects, and informed consent was signed.

[0051] 2. Sample whole exome and whole genome sequencing

[0052] Peripheral blood samples from 71 patients with non-syndromic cleft lip and palate and 33 individuals without related diseases were sent to Beijing Novogene Co., Ltd. for whole exome sequencing; 50 of 67 healthy control individuals Individual peripheral blood samples were se...

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Abstract

The invention discloses a non-syndromic cleft lip and palate genetic risk prediction model, the formula of which is as follows: in the formula, k is the number of SNP sites; Gi represents the number of genetic risk alleles of the ith SNP site, namely 0, 1 and 2; [beta]i represents the weight of the i-th SNP site; SNP is rs139860270, rs1883873, rs139530062, rs144415105, rs55816698, rs139860270, rs6989548 and rs12952376. According to the genetic risk scoring model, the weak effects of the eight SNPs are superposed, so the prediction of the genetic risk of the non-syndromic cleft lip and palate is greatly improved. The invention provides a genetic risk scoring model for the first time to evaluate the risk leaving ability of non-syndromic cleft lip and palate. The model is high in accuracy, and a more comprehensive, accurate and individualized scientific basis can be provided for risk assessment and prevention and control of cleft lip and palate in China.

Description

technical field [0001] The invention belongs to the technical field of genetic disease diagnosis and relates to a weighted genetic risk prediction model related to non-syndromic lip and palate. Background technique [0002] Congenital cleft lip and palate is a common birth defect, mainly divided into syndromic cleft lip and palate and non-syndromic cleft lip and palate, with an incidence of about 1 / 700. Patients with cleft lip and palate mainly manifest as simple cleft lip, simple cleft palate, and cleft lip and palate. Patients with syndromic cleft lip and palate are often accompanied by other defects, such as structural brain deformities. Cleft lip and palate patients often have problems such as eating difficulties when they are born, and as time goes by, cleft lip and palate patients may also develop symptoms such as language barriers and hearing loss. Even if it is cured by surgery, patients with cleft lip and palate may also have some psychological problems, which will...

Claims

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): G16H50/20C12Q1/6883G16B20/20
CPCG16H50/20C12Q1/6883G16B20/20C12Q2600/156Y02A90/10
Inventor 孙文靖贾学渊司书涵焦晓辉宋红权雷常贵张学龙
Owner HARBIN MEDICAL UNIVERSITY
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