Primer set and kit for detecting four mutations of SLC25A13 gene and application thereof

Abstract

The invention discloses a primer set for detecting four mutations of an SLC25A13 gene and application thereof. The invention also discloses a detection kit for Citrin deficiency pathogenic gene mutations. The detection kit comprises the primer set, a PCR buffer, Mg2+, dNTPs and DNA polymerase. The PCR buffer contains Tris-HCl and KCl. The kit detects the mutations of the SLC25A13 gene by using a multi-color probe melting curve technology, relates to a fluorescent PCR technology, an asymmetric PCR technology, a multiplex PCR technology and a melting curve analysis technology, and achieves simultaneous detection of the wild type mutation, the heterozygous mutation and the homozygous mutation of 851_854del (type I), 1638_1660dup (type III), IVS6+5G) A (type X) and IVS16ins3kb (type XIX) through one PCR reaction. The method has the advantages of simple operation, high sensitivity, high specificity and low cost.

Description

technical field

[0001] The invention relates to the technical field of gene detection, in particular to a primer set, a kit and an application thereof for detecting four mutations of the Citrin deficiency pathogenic gene SLC25A13. Background technique

[0002] Citrin deficiency (Citrin Deficiency, CD) is an autosomal recessive genetic disease caused by SLC25A13 gene mutation. The SLC25A13 gene is located on human chromosome 7q21.3, contains 18 exons, and its open reading frame is 2028bp in length, encoding an aspartic acid / glutamic acid carrier subtype 2 (Aspartate / Glutamate Carrier isoform 2, AGC2). The role of AGC2 is to exchange the aspartic acid synthesized by the mitochondrial matrix with the glutamic acid in the cell cytoplasm, and at the same time provide a proton to the mitochondria, and when the SLC25A13 gene mutation can affect the activity of AGC2, a series of complex Metabolic disorders, and eventually Citrin deficiency. Citrin deficiency currently has three ...

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