SUCLA2 gene mutant and its application

A technology of mutants and β subunits, applied in the direction of recombinant DNA technology, DNA/RNA fragments, bioreactor/fermenter combination, etc., can solve problems such as depletion of mitochondrial DNA, etc.

Active Publication Date: 2014-02-12
BGI GENOMICS CO LTD
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

[0003] However, the research on mitochondrial DNA depletion syndrome still needs to be further studied at this stage

Method used

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  • SUCLA2 gene mutant and its application
  • SUCLA2 gene mutant and its application
  • SUCLA2 gene mutant and its application

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0048] Example 1 Whole Exome Sequencing Determination of Disease-causing Genes and Mutation Sites

[0049] 1. Sample collection:

[0050] The inventor collected a pedigree of consanguineous marriage in Italy, the parents were married to cousins, the parents were normal, and the two daughters were sick:

[0051] The main clinical manifestations of the first progenitor (PI) were: no abnormalities were found during pregnancy and puerperium. At 1 month of age, myasthenia, growth retardation, slower weight gain, and frequent vomiting occurred. When he was 8 months old, the neurological examination showed that the cranial nerve examination was normal and the visual examination was good; however, the proximal trunk muscles were weak, the movement was slow, and the tendon reflexes were hyperreflexia; he had difficulty swallowing, and nasal feeding was started. Biochemical examination showed: elevated levels of lactate (3057 μmol / l, 193 μmol / l) and pyruvate (2262 μmol / l, 144 μmol / l) ...

Embodiment 2

[0070] Example 2 Sanger method sequencing verification (in-family, out-of-family, sporadic and other sample verification)

[0071] The peripheral blood of patients PI (obtained and preserved in 2011) and PII and their parents in the family were collected, and the genomic DNA in the peripheral blood leukocytes was extracted by the conventional phenol-chloroform method, and the DNA content was measured by a spectrophotometer. Concentration and purity, the OD260 / OD280 of the genomic DNA of each sample obtained is between 1.7-2.0, the concentration is not less than 200ng / μl, and the total amount is not less than 30μg.

[0072] Then, 2 patients (PI and PII) in the family and 2 normal people in the family (the parents of the patients, neither of whom had the disease) were tested, and primers were designed for the sequence between exons 3 and 4 of the SUCLA2 gene , through PCR amplification, product purification, and sequencing to obtain the sequence of the SUCLA2 gene, and to verify...

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Abstract

The invention relates to a separated nucleic acid of an encoded succinate coenzyme A ligase beta subunit mutant, a separated polypeptide, a method for screening a biological sample susceptible to mitochondrial DNA depletion syndromes, a system for screening the biological sample susceptible to mitochondrial DNA depletion syndromes, and a kit for screening the biological sample susceptible to mitochondrial DNA depletion syndromes. Specifically, compared with the SEQ ID NO:1, the separated nucleic acid of the encoded succinate coenzyme A ligase beta subunit mutant has c.C308A mutation. By detecting whether the mutant exists in the biological sample, whether the biological sample is susceptible to mitochondrial DNA depletion syndromes can be effectively detected.

Description

technical field [0001] The present invention relates to SUCLA2 gene mutant and application thereof. Specifically, the present invention relates to isolated nucleic acids encoding succinate-CoA ligase beta subunit mutants, isolated polypeptides, methods for screening biological samples susceptible to mitochondrial DNA depletion syndrome, methods for screening susceptible mitochondrial DNA depletion syndrome Systems for biological samples and kits for screening biological samples for susceptibility to mitochondrial DNA depletion syndrome. Background technique [0002] Mitochondrial respiratory chain complex (Multiple mitochondrial respiratory chain, MRC) deficiency is an important cause of mitochondrial disease, affected by a variety of molecular genetic mechanisms, such as mitochondrial DNA (mtDNA) loss, mitochondrial tRNA point mutation, mitochondrial RNA translation defects, mitochondrial DNA (mtDNA) depletion, defects in respiratory chain subunit assembly or regulatory fu...

Claims

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): C12N15/52C12N9/00C12Q1/68C12M1/34
Inventor 方明艳刘轩竹王海荣王俊汪建杨焕明
Owner BGI GENOMICS CO LTD
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