Citrin immunodeficiency disease virulence gene SLC25A13 high frequency mutation screening reagent box

Abstract

The invention discloses a Citrin immunodeficiency disease virulence gene SLC25A13 high frequency mutation screening reagent box, and belongs to the biotechnology field. Four kinds of mutations include a I type mutation, a III type mutation, an X type mutation and an XIX type mutation. Sequence of the Citrin immunodeficiency disease virulence gene SLC25A13 high frequency mutation screening primers are displayed as SEQ ID NO.1-8. The Citrin immunodeficiency disease virulence gene SLC25A13 high frequency mutation screening reagent box comprises the primers, dNTPs, deoxyribonucleic acid (DNA) polymerase, DNA polymerase buffer solution and Tas I restriction enzyme components. The reagent box further comprises reagent for extracting genomic DNA from a full blood sample, four kinds of mutation type normality, homozygote and heterozygote comparison DNA, agarose for nucleic acid electrophoresis, DNA Marker and nucleic acid dyestuff. The primers and the reagent box can easily, fast and accurately screen the four high frequency mutations in the SLC25A13.

Description

technical field [0001] The invention belongs to the field of biotechnology, and relates to screening primers and kits for high-frequency mutations (type I, type III, type X and type XIX) of Citrin deficiency disease-causing gene SLC25A13. Background technique [0002] Citrin protein is a calcium-regulating carrier protein encoded by the SLC25A13 gene located on the inner membrane of mitochondria, mainly expressed in the liver. As a calcium-binding mitochondrial solute carrier (Aspaetate-Glutamate Carrier, AGC), the first function of Citrin protein is to transport aspartic acid into the cytoplasm as a carrier of aspartic acid, and provide urea, protein and nucleotide synthesis materials; The second is to provide reduced nicotinamide adenine dinucleotide (NADH) to the mitochondria as a component of the aspartic acid-malic acid barrier on the inner membrane of the mitochondria for the catabolism of sugar; the third is to regulate the reduction of nicotinamide The ratio of aden...

AI Technical Summary

Problems solved by technology

[0005] The clinical manifestations of Citrin deficiency disease are complex and diverse, and mature clinical and biochemical diagnostic criteria have not yet been established. SLC25A13 gene mutation analysis is considered to be a necessary means for the diagnosis of the disease

In the past, the analysis of this gene mainly relied on gene sequencing, which was time-consuming and expensive

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