Mutant of CAII and application thereof

A technology for recombining vectors and proteins, applied in the field of biomedicine, can solve problems affecting RNA splicing, etc.

Active Publication Date: 2020-07-24
SICHUAN PROVINCIAL PEOPLES HOSPITAL
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Problems solved by technology

Splicing enhancers mainly exist in the exon region, so mutations in the coding region affect the encoded protein on the one hand, such as nonsense mutations or missense mutations, and on the other hand, may affect RNA splicing by changing the splicing regulatory sequence, resulting in more severe s consequence

Method used

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  • Mutant of CAII and application thereof
  • Mutant of CAII and application thereof
  • Mutant of CAII and application thereof

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Embodiment Construction

[0023] In the present invention, "sample" refers to a biological sample obtained from an individual for the purpose of in vitro evaluation, and the sample or patient sample in the present invention may include any bodily fluid. A preferred sample is blood, such as serum, plasma or whole blood.

[0024] In the present invention, the term "vector"" refers to a DNA product comprising a DNA sequence operably linked to control sequences capable of expressing the DNA in a suitable host. A vector can be a plasmid, phage particle or simply a potential genomic insert. Once a suitable host is transformed with a vector, it can replicate and function independently of the host's genome, or it can integrate with the genome itself. Since plasmids are the most commonly used type of vector, the terms "plasmid" and "vector" are sometimes used in the present invention Can be used interchangeably in the description. However, the present invention includes other forms of vectors having the same fu...

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Abstract

The invention discloses a mutant of CAII and application thereof. By carrying out exome sequencing on a patient suffering from the CAII defective syndrome, the invention finds that a mutation exists at the position of nucleotide on the 368th site. Discovery of the mutation provides a new means for diagnosis of the CAII defective syndrome and disease diagnosis and medicine development related to CAII.

Description

technical field [0001] The invention relates to the field of biomedicine, in particular to a mutant of CAII and its application. Background technique [0002] Carbonic anhydrase (CA) is a class of zinc enzymes that catalyze the reversible reaction of carbon dioxide and water to form bicarbonate and hydrogen ions. It widely exists in animals, plants and microorganisms and plays an important role in bioprocessing. Due to the characteristics of carbonic anhydrase, it is being widely used in biological detection, screening of natural active substances, biosensors, CO 2 Capture and physiological diagnosis and other fields. Carbonic anhydrase has different functions in various organs: HCO located in red blood cells in the lungs 3 - with H + combined to generate H 2 CO 3 , carbonic anhydrase I, carbonic anhydrase II accelerate H 2 CO 3 decomposed into CO 2 and H 2 rate of O, CO 2 Enter the plasma by diffusion, in order to replenish the consumed HCO 3 - , HCO in plasma...

Claims

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): C12N9/88C12N15/60C12N15/11C12M1/34C12M1/00C12Q1/6883G01N33/573
CPCC12N9/88C12Q1/6883C12Q2600/156C12Y402/01001G01N33/573G01N2333/988
Inventor 杨艳
Owner SICHUAN PROVINCIAL PEOPLES HOSPITAL
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