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TOMM40 mutant gene as well as primer, kit and method for detecting TOMM40 mutant gene and application of TOMM40 mutant gene

A gene and reagent technology applied in the field of TOMM40 mutant gene

Pending Publication Date: 2021-08-17
福州福瑞医学检验实验室有限公司
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  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

Although nearly a thousand nuclear genome genes have been found to be related to the function of mitochondria, only a small number of them have been confirmed to be related to the occurrence of LIMD, suggesting that there are new LIMD pathogenic genes to be discovered

Method used

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  • TOMM40 mutant gene as well as primer, kit and method for detecting TOMM40 mutant gene and application of TOMM40 mutant gene
  • TOMM40 mutant gene as well as primer, kit and method for detecting TOMM40 mutant gene and application of TOMM40 mutant gene
  • TOMM40 mutant gene as well as primer, kit and method for detecting TOMM40 mutant gene and application of TOMM40 mutant gene

Examples

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Embodiment 1

[0073] In this example, whole-exome high-throughput sequencing was performed on multiple families of patients with lethal infantile mitochondrial disease (LIMD), which included the following steps in sequence:

[0074] (1) Sample collection and extraction of genomic DNA.

[0075] The clinical data and blood samples (EDTA anticoagulation) of family members were collected, and the samples were blood samples sent to Furui Medical Laboratory Co., Ltd. for inspection.

[0076] The blood genomic DNA of each member of the family was extracted according to the instructions of the blood DNA extraction kit (Magen, HiPure Blood & Tissue DNA Kit). Use Nanodrop one to measure the purity of DNA. The OD260nm / OD280nm of the obtained genomic DNA is between 1.7-2.0. Use Nanodrop one to measure the concentration of DNA. The concentration of the obtained genomic DNA is 50-100ng / μL, and the total amount is 5-10μg. Store at -20°C.

[0077] (2) Exome sequencing and bioinformatics analysis.

[007...

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Abstract

The invention relates to a TOMM40 mutant gene related to LIMD, a primer, a kit and a method for detecting the TOMM40 mutant gene and application of the TOMM40 mutant gene. Compared with a human genome reference sequence GRCh37, the mutant TOMM40 gene has one of the following mutations: a basic group at the physical position 45397124 of a chromosome 19 is mutated from A to T, and a basic group at the physical position 45404043 of the chromosome 19 is mutated from G to T. Compared with the sequence of SEQ ID NO.1, the cDNA (complementary deoxyribonucleic acid) sequence of the mutant TOMM40 gene has one of the following mutations: c.523A > T and c.700G > T; and compared with the sequence of SEQ ID NO.2, the sequence of the mutated TOMM40 protein has one of the following mutations: p.Lys175Ter and p.Glu234Ter. The invention provides an important basis for early molecular screening and family genetic research of the LIMD.

Description

technical field [0001] The invention relates to a disease-related mutation gene, in particular to a TOMM40 mutation gene, a primer, a kit and a method for detecting it, and an application thereof. Background technique [0002] Mitochondrial diseases have the highest incidence of all inherited metabolic diseases. Mitochondria are primarily responsible for oxidative phosphorylation to produce adenosine triphosphate. The pathogenesis of mitochondrial disease involves two distinct genomes: the nuclear genome and the maternally inherited 16.6 kb mitochondrial genome. Mitochondrial diseases can be caused by mutations in any of these genomes. Defects in nuclear DNA (nDNA) lead to problems such as respiratory chain complex structure, translation and mitochondrial DNA (mtDNA) repair defects. About 25% of mitochondrial diseases diagnosed in childhood are due to abnormalities in mitochondrial DNA, while the remaining 75% are due to nDNA defects. Severe neonatal or infant-onset mito...

Claims

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Application Information

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IPC IPC(8): C12N15/52C12N9/00C12N15/11C12Q1/6883
CPCC12N9/00C12Q1/6883C12Q2600/156
Inventor 王开宇马鑫瑞
Owner 福州福瑞医学检验实验室有限公司
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