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New mutation of scn1a gene in hereditary epilepsy with febrile seizures plus

A gene and genome sequence technology, applied in the field of disease-related mutant genes

Active Publication Date: 2018-08-31
SHENZHEN HUADA GENE INST
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

However, there are still more patients with epilepsy susceptibility genes to be identified clinically.

Method used

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  • New mutation of scn1a gene in hereditary epilepsy with febrile seizures plus
  • New mutation of scn1a gene in hereditary epilepsy with febrile seizures plus
  • New mutation of scn1a gene in hereditary epilepsy with febrile seizures plus

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0045] In this example, a new generation of whole-exome sequencing technology was used to perform high-throughput sequencing of the entire exon region of a GEFS+ family with autosomal dominant inheritance in the Chinese Han nationality. Combining with biological information analysis, it was found that the c on the SCN1A gene The .4442T>C / p.Val1481Ala mutation was associated with GEFS+, and this variation was verified by co-segregation experiments and other methods.

[0046] 1. Sample collection

[0047] The GEFS+ family contained 7 members, including 4 patients ( figure 1 ). Two GEFS+ patients in the family were selected as exome sequencing samples (Table 1), and 2ml of peripheral blood samples were collected from each sample, anticoagulated with EDTA, and stored at -80°C. Later, another 2 patients and 3 normal control individuals in the family were collected as secondary verification samples (Table 2). 2 ml of peripheral blood samples were collected from each, anticoagulate...

Embodiment 2

[0089] As a further verification of Example 1, the following examples are provided.

[0090] 1 Sample preparation

[0091] Collect the peripheral blood of 7 samples (4 patients and 3 controls) in the GEFS+ family, extract genomic DNA according to the method of 2.1 in Example 1, and use a spectrophotometer to measure the concentration and purity of DNA. OD260 / OD280 are both between 1.7-2.0, the concentration is not less than 200ng / ul, and the total amount is not less than 30μg.

[0092] 2 Gene detection of disease-causing mutations

[0093] Whole exome sequencing was performed on the 2 samples (both patients) in Table 1 in the family and the SCN1A gene of 7 samples (4 patients and 3 controls in the family, see Table 1 and Table 2 for specific information) The mutation site is detected, and primers are designed for the sequence near the new mutation site detected by the known gene, and the relevant sequence near the deletion site is obtained by PCR amplification, product purif...

Embodiment 3

[0118] Kit 1: a kit for detecting the mutant SCN1A gene, comprising one or more sets of primer pairs, wherein the mutation is the mutation c.4442T>C of the SCN1A gene (ie protein mutation p.Val1481Ala), and the primer pairs are respectively Design on the genomic sequence or cDNA sequence based on a position selected from the following, so that the amplified product covers this position: the 4442nd position of the cDNA sequence of the SCN1A gene, and the kit for detecting the mutant SCN1A gene or protein includes the following primers:

[0119] SEQ ID NO:3 and SEQ ID NO:4.

[0120] Kit 2: a kit for detecting the mutant SCN1A gene, comprising one or more nucleic acid probes, the mutation is the mutation c.4442T>C of the SCN1A gene, and the probe and the mutant SCN1A gene contain Complementary regions on the genome sequence or cDNA sequence: position 4442 of the cDNA sequence of the SCN1A gene.

[0121] The specific steps for detecting the mutant SCN1A gene or protein using the ...

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Abstract

The invention relates to the disease associated mutant gene field, particularly relates to genetic disease gene mutation and genetical epilepsy-combining febrile convulsion additional symptom associated gene mutation, and more particularly relates to genetical epilepsy-combining febrile convulsion additional symptom associated SCN1A gene mutation, and a detection method and use thereof. Specifically, the present invention discloses SCN1A gene or protein with the following mutations of c.4442T & gt and C / p.Val1481Ala.

Description

technical field [0001] The invention relates to the field of disease-related mutation genes, in particular to genetic disease gene mutations and hereditary epilepsy with febrile seizures-related gene mutations. Background technique [0002] Febrile seizures (Febrile Seizure, FS) are the most common convulsive events in humans, which occur between 3 months and 6 years old, and are convulsions induced by acute fever (excluding central nervous system infection or injury). It has a clear genetic susceptibility, familial onset is common, and the prevalence rate of siblings of febrile convulsion patients is 19.9%-24.9% higher than that of the general population. Benign FS itself does not belong to the category of epilepsy, but the probability of future epileptic seizures in complex or frequent FS is significantly higher than that of the general population. At present, it is generally believed that febrile seizure-associated seizures are an epilepsy syndrome closely related to gen...

Claims

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Application Information

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Patent Type & Authority Patents(China)
IPC IPC(8): C12N15/12C07K14/47C12Q1/6883C12N15/11G01N33/68
Inventor 廖卫平周青石奕武管李萍秦兵何娜张建国
Owner SHENZHEN HUADA GENE INST
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