Mutant N4BP2 gene related to non-syndromic cleft lip and palate and application thereof

A technology for cleft lip and palate and syndrome, applied in the fields of application, genetic engineering, plant genetic improvement, etc., can solve the problem of limited functional research and achieve the effect of enriching the mutation spectrum of pathogenic genes

CN112458104APending Publication Date: 2021-03-09HARBIN MEDICAL UNIVERSITY
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Patent Information

Authority / Receiving Office
CN · China
Patent Type
Applications(China)
Current Assignee / Owner
Publication Date
2021-03-09

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Abstract

The invention discloses a mutant N4BP2 gene related to non-syndromic cleft lip and palate and application thereof. Compared with an un-mutant N4BP2 Gene with the gene bank accession number of NM_018177.6, the mutant N4BP2 contains respectively contains a non-frameshift deletion mutation site 4: 40133481-40133489delAAGATATTT at a 13 exon, and a missense mutation site 4: 40123905T which is greater than G and a missense mutation site 4: 40122958C which is greater than T at a 9 exon,. The mutant N4BP2 gene can be used for preparing a diagnostic kit for detecting non-syndromic cleft lip andpalate diseases. The discovery of the mutation sites can be used for performing prenatal and postnatal care guidance on family offspring, and can be used as a screening site for carrier screening andprenatal diagnosis screening of the non-syndromic cleft lip and palate diseases for the prenatal and postnatal care guidance of groups.
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Description

technical field

[0001] The invention belongs to the field of medical gene diagnosis, and relates to a genetic disease non-syndromic cleft lip and palate mutation site of the causative gene N4BP2 and its application in gene diagnosis. Background technique

[0002] Cleft lip and palate is the most common structural birth defect of congenital maxillofacial cleft, with a worldwide incidence of about 1 / 700 newborns. Children born with cleft lip and palate have severe feeding problems, speech difficulties, middle ear infections, and tooth defects.

[0003] The prevalence of cleft lip and palate is high in the Chinese population (1.42 / 1000). Cleft lip and palate can be divided into syndromic cleft lip and palate and non-syndromic cleft lip and palate according to whether it is accompanied by other deformities. Among them, non-syndromic cleft lip and palate are more common, including three forms of single cleft lip, cleft palate or cleft lip and cleft palate, accounting for more t...

Examples

Embodiment

[0036] 1. Collection of families and sporadic cases of patients with non-syndromic cleft lip and palate

[0037] According to the principle of informed consent, a 4-generation family with non-syndromic cleft lip and palate in northern China and 33 sporadic patients were collected. The proband IV2 in the family was female, mainly manifested as left cleft lip. The mother of the patient also presented with a left cleft lip, the father was phenotypically normal, and was not consanguineous. Plot the pedigree ( figure 1 ). Of the 33 sporadic patients, 17 were cleft lip and 16 were cleft palate. The collected samples included peripheral blood samples of 2 patients (IV2, III17) and 1 normal individual (III16) in the family and 33 sporadic patients, as well as relevant basic information and clinical data, etc., and were numbered.

[0038] 2. DNA analysis of genetic diagnosis of non-syndromic cleft lip and palate pathogenic gene mutation

[0039] Genomic DNA extraction from the peri...