An autosomal recessive karagener syndrome mutant gene and its application

An autosomal recessive, syndromic technology, applied in Kartagener syndrome mutant gene and its application field, can solve problems such as affecting breathing and sleep, and achieve the effect of reducing birth defects

Active Publication Date: 2022-04-15
SHANGHAI FIRST PEOPLES HOSPITAL
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

Patients may also develop chronic sinusitis and nasal polyps, which seriously affect breathing and sleep, and require repeated nasal polypectomy operations, causing great physical and mental pain

Method used

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  • An autosomal recessive karagener syndrome mutant gene and its application
  • An autosomal recessive karagener syndrome mutant gene and its application
  • An autosomal recessive karagener syndrome mutant gene and its application

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0026] 1. Materials and methods

[0027] 1. Clinical data

[0028] Proband ( figure 2 Middle II: 3): Male, Han nationality, 30 years old, came to our hospital for outpatient treatment because he had not had children for 3 years after marriage. The proband had a long-term chronic cough and coughed up yellow-white sputum since childhood. The sputum volume was large and easy to cough up. He underwent left and right lobectomy successively because of "bilateral lung cyst with infection"; chronic nasal congestion, heavy nasal voice, Yellow purulent nasal discharge, a lot of nasal discharge, nasal endoscopy showed bilateral nasal polyps, nasal polypectomy was performed twice, and there are still polyps in the nasal cavity. The proband's father, mother, older sister, younger brother, and younger sister had no similar manifestations. There was no history of hereditary diseases in the family, and the parents were not consanguineous. The proband had no abnormal sense of smell, visio...

Embodiment 2

[0047] The method in Example 1 is used for verification, and the efficiency and accuracy are high.

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PUM

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Abstract

The invention relates to an autosomal recessive Kartagener syndrome mutant gene and its application. The advantages of the invention are as follows: the present invention finds the missense of the No. 5 exon of the gene in the family by PCR amplification and sequence determination of the DANAF5 gene of an autosomal recessive Kartagener syndrome family, taking the GRCh37 / h19 genome sequence as a reference. Mutation (T>G) + frameshift mutation in exon 9 (CCA>C) is a compound pathogenic mutation, which is the first report at home and abroad, and is a newly discovered pathogenic mutation in Kartagener syndrome. This mutation can be used in prenatal diagnosis and genetic counseling for Kartagener syndrome to reduce birth defects. Based on this, a reagent for detecting DNAAF5 gene exons 5 and 9 can be used to prepare a reagent for diagnosing Kartagener syndrome, and a diagnostic kit can be developed.

Description

technical field [0001] The invention relates to the technical field of gene diagnosis, in particular to a mutant gene of Kartagener syndrome (Kartagener syndrome, KS) and application thereof. Background technique [0002] Primary ciliary dyskinesia is an autosomal recessive genetic disorder with genetic heterogeneity. Its pathogenesis is caused by the loss of function of different parts of the assembly to form cilia. The most common abnormality is the abnormal function of the component protein of the dynein arm. KS is a combination of primary ciliary dyskinesia and visceral transposition and occurs in approximately 50% of patients with primary ciliary dyskinesia. During embryonic development, normal ganglionic cilia movement is required for visceral translocation, and loss of normal ganglionic cilium movement results in abnormal visceral translocation. Random chance determines whether guts occupy normal or reversed positions during embryonic development. This explains why ...

Claims

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Application Information

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Patent Type & Authority Patents(China)
IPC IPC(8): C12Q1/6883C12N15/11
CPCC12Q1/6883C12Q2600/156
Inventor 李铮顾本宏朱子珏赵亮宇汪小波薛云婧
Owner SHANGHAI FIRST PEOPLES HOSPITAL
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