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High-frequency XIX type mutation screening primer and high-frequency XIX type mutation screening kit for disease-causing gene SLC25A13 of Citrin deficiency (CD)

A disease-causing gene and mutation screening technology, applied in the biological field, can solve the problems of inability to distinguish homozygotes and heterozygotes, nested PCR is prone to pollution, etc., and achieve the effect of low cost and direct detection results

Inactive Publication Date: 2016-06-22
JINAN UNIVERSITY
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Problems solved by technology

This method cannot distinguish homozygotes from heterozygotes, and nested PCR is very prone to contamination, resulting in false positive results

Method used

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  • High-frequency XIX type mutation screening primer and high-frequency XIX type mutation screening kit for disease-causing gene SLC25A13 of Citrin deficiency (CD)
  • High-frequency XIX type mutation screening primer and high-frequency XIX type mutation screening kit for disease-causing gene SLC25A13 of Citrin deficiency (CD)
  • High-frequency XIX type mutation screening primer and high-frequency XIX type mutation screening kit for disease-causing gene SLC25A13 of Citrin deficiency (CD)

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Embodiment 1

[0022] 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.

[0023] PCR Amplification of SLC25A13 Gene XIX Mutation

[0024] Using the blood genomic DNA of a group of suspected Citrin deficiency patients and their parents as templates, PCR amplification of type XIX mutations was performed. At the same time, 10 DNA samples known to be heterozygous for the XIX mutation of the SLC25A13 gene, 10 DNA samples known to not carry the XIX mutation of the SLC25A13 gene, and 4 DNA samples of homozygous DNA for the known XIX mutation of the SLC25A13 gene were used as another group of test specimens , to verify the ...

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Abstract

The invention discloses a Citrin deficiency disease-causing gene SLC25A13 high-frequency type XIX mutation screening primer and a kit, which belong to the field of biotechnology. The present invention provides three newly designed primers, establishes a multiplex PCR system relying on common Taq enzymes, and can identify whether a sample is XIX mutation negative, positive or heterozygous through one PCR and analysis of the electrophoretic pattern, which is accurate, simple, fast and low cost. The screening primers and kits of the present invention do not require DNA sequencing, are simple, fast, and low-cost, and the detection results are direct and reliable. The detection time and cost are significantly better than existing methods, and can be completed with simple and common equipment, suitable for Rapid detection and large-scale population screening of high-frequency XIX mutations of the SLC25A13 gene by medical and testing institutions around the world.

Description

technical field [0001] The invention belongs to the field of biotechnology, and in particular relates to a screening primer and a kit for the high-frequency XIX type mutation 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 Ci...

Claims

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): C12Q1/68C12N15/11
CPCC12Q1/6883C12Q1/6858C12Q2600/156C12Q2600/16C12Q2531/113C12Q2537/143C12Q2565/125
Inventor 张占会宋元宗
Owner JINAN UNIVERSITY
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