Citrin immunodeficiency disease pathogenic gene SLC25A13 high-frequency I-type mutation screening primers and kit

Abstract

The invention discloses Citrin immunodeficiency disease pathogenic gene SLC25A13 high-frequency I-type mutation screening primers and kit, belongs to the technical field of biology. Four newly designed primers are provided; a multi-PCR system depending on an ordinary rTaq enzyme is built; whether a sample is I mutation positive or negative or heterozygote can be identified through once PCR and analysis of an electrophoretogram; the primers and the kit are accurate, simple, fast and low in cost. By the screening primers and kit disclosed by the invention, DNA sequencing is not needed; the screening primers and kit are simple, fast and low in cost; the detection result is direct and reliable; the detection time and cost are superior to those of an existing method; the screening primers and kit can be finished by simple common equipment and are suitable for medical and test mechanisms of various regions for fast detection and large-scale population screening of the SLC25A13 high-frequency I-type mutation.

Description

technical field [0001] The invention belongs to the field of biotechnology, and in particular relates to a primer and a kit for screening high-frequency type I mutations of the 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. Mutations in the SLC25A13 gene lead to insufficiency or loss of the function of the citrin protein encoded by it, causing a series of biochemical and metabolic disorders, and finally forming an autosomal recessive genetic disease with different clinical phenotypes and prognosis, with liver damage as the prominent clinical manifestation-Citrin Deficiency disease (CitrinDeficiency, CD). The main clinical phenotypes of CD can be divided into three types: neonatal intrahepatic cholestasis caused by Citrin deficiency (Neonatal Intrahepatic Cholestasis caused by Citrin ...

AI Technical Summary

Problems solved by technology

This method is time-consuming, and the use of endonuclease almost doubles the detection cost and time; there is also a method based on high-resolution melting curve analysis (High Resolution Melting Analysis, HRMA) suitable for large-scale analysis, which requires the use of Expensive primers modified with fluorophores or related reagents such as saturated fluorescent dyes. At the same time, a real-time PCR instrument including high-resolution melting curve analysis (HRMA) function is required

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