Autosomal recessive heredity Kartagener syndrome mutant gene and application thereof

Abstract

The invention relates to an autosomal recessive heredity Kartagener syndrome mutant gene and an application thereof. The advantages of the autosomal recessive heredity Kartagener syndrome mutant genedisclosed by the invention are expressed in the following respect that through PCR amplification and sequence determination on autosomal recessive heredity Kartagener syndrome line DANAF5 genes, GRCh37 / h19 genome sequences are used as a reference, the inventor finds out that missense mutation (T>G)+ of No. 5 exons of the genes in the line and frameshift mutation (CCA>C) of No. 9 exons of the genesin the line are composite infective mutations, which is reported for the first time at home and abroad, and the missense mutation (T>G)+ of No. 5 exons of the genes in the line and the frameshift mutation (CCA>C) of No. 9 exons of the genes in the line are newly-found infective mutations of the Kartagener syndromes. The mutation can be used for prenatal diagnosis and heredity consultation of theKartagener syndromes, and birth defects are reduced. Based on the mutation, reagents for detecting No. 5 exons and No. 9 exons of the DNAAF5 genes can be used for preparing reagents for diagnosing theKartagener syndromes, and diagnosing kits are 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 ...

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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

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