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

A disease-causing gene and mutation screening technology, applied in the biological field, can solve the problems of expensive, time-consuming, and increased detection costs and time, and achieve the effect of low cost and direct detection results

Inactive Publication Date: 2016-07-27
JINAN UNIVERSITY
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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,

Method used

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

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Embodiment 1

[0023] The specific implementation requires the extraction of genomic DNA from the peripheral blood of suspected patients’ families or large-scale screening groups (generally, a small amount of whole blood DNA extraction kit is sufficient, and the user prepares it himself), with a concentration of 50-150 ng / μl. At the same time, there should be a PCR instrument, electrophoresis equipment and common electrophoresis gel-making reagents.

[0024] PCR Amplification of SLC25A13 Gene I Mutation

[0025] Using the blood genome DNA of a group of suspected Citrin deficiency patients and their parents as templates, PCR amplification of type I mutations was performed. At the same time, 10 DNA samples known to be heterozygous for the type I mutation of the SLC25A13 gene, 10 DNA samples known to have no type I mutation of the SLC25A13 gene, and 5 DNA samples of homozygous DNA for the known type I mutation of the SLC25A13 gene were used as another group of test specimens , to verify the re...

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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 ...

Claims

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Application Information

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IPC IPC(8): C12Q1/68C12N15/11
CPCC12Q1/6883C12Q2600/156C12Q2600/16
Inventor 张占会宋元宗
Owner JINAN UNIVERSITY
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