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BCS1L gene mutant and use thereof

A technology of mutants and nucleic acids, applied in the field of BCS1L gene mutants, can solve the problems of patients with unknown etiology and needs to be further studied

Active Publication Date: 2016-07-27
BGI SHENZHEN CO LTD
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

Although some mutations in this gene have been found to cause syndrome, but the etiology is still unknown in many patients, new mutations in this gene or mutations in other genes may also be the cause of the syndrome
[0003] Therefore, currently The study of the syndrome, especially its causative gene, still needs to be deepened

Method used

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  • BCS1L gene mutant and use thereof
  • BCS1L gene mutant and use thereof
  • BCS1L gene mutant and use thereof

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0061] Example 1 determines Syndrome Pathogenic Mutations

[0062] 1. Sample collection

[0063] The inventor collected a Chinese Han 2 generation Syndrome patient family, the family contains 4 members, including normal parents and a 17-year-old affected daughter (proband), a 12-year-old affected son. Both patients presented with hair loss and hearing loss.

[0064] The inventor collected peripheral blood samples of all members of the family, added EDTA for anticoagulation, and stored them at -80°C. All blood samples were signed informed consent, and were approved by the Ethics Committee of Peking University First Hospital.

[0065] 2. DNA extraction

[0066] The peripheral blood of all members of the above-mentioned family was taken, and the genomic DNA was extracted from the peripheral blood sample using the OMEGABloodDNAMidiKit Whole Blood DNA Extraction Kit, and the concentration and purity of the DNA were measured by a spectrophotometer, and the OD of each genomic DN...

Embodiment 2

[0080] Example 2 Sanger method sequencing verification

[0081] Respectively to embodiment 1 described The BCS1L gene of all family members (including 2 patients and 2 normal family members) in the syndrome patient family and 300 randomly selected normal people outside the family were tested: c.556C>T and c. Primers were designed for the 916C>T mutation, and then the relevant sequence of the mutation site was obtained by PCR amplification, product purification and sequencing. According to the sequence determination results, whether it was mutant or wild type, the c.556C>T and c. 916C>T mutation and Correlation between syndromes.

[0082] The specific method steps are as follows:

[0083] 1. DNA extraction

[0084] According to the method for extracting DNA described in Example 1, the genomic DNA in the peripheral venous blood of the subject was extracted and prepared respectively for future use.

[0085] 2. Primer design and PCR reaction

[0086] First, refer to the hu...

Embodiment 3

[0098] Embodiment 3 detection kit

[0099] Prepare a detection kit, which includes primers capable of detecting the c.556C>T and c.916C>T mutations of the BCS1L gene, for screening susceptibility Syndrome biological samples, wherein these primers are BCS1L gene exon-specific primers, the sequences of which are shown in SEQ ID NO: 3-6 in Example 2.

[0100] Use the above kits to screen for susceptibility The specific steps of the biological sample of the syndrome are: extract the test subject's DNA according to the method described in step 2 of embodiment 1, and carry out PCR reaction (PCR) with the extracted DNA as template and the exon-specific primer of the above-mentioned BCS1L gene Refer to Example 2 for the reaction system and reaction conditions, and purify the PCR product according to conventional methods in the art, sequence the purified product, and then observe whether the sequence obtained by sequencing has both c.556C>T and c.916C> T mutation, which can effectiv...

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Abstract

The invention discloses a BCS1L gene mutant and a use thereof and concretely relates to a separated nucleic acid for coding a BCS1L mutant, a separated polypeptide, a method for screening a biological sample easily suffering from Bjornstad syndrome, a system for screening a biological sample easily suffering from Bjornstad syndrome and a kit for screening a biological sample easily suffering from Bjornstad syndrome. Compared with a nucleic acid shown in the formula of SEQ ID NO: 1, the separated nucleic acid for coding a BCS1L mutant has c.556C>T mutation or c. 916C>T mutation. Through detection of existence of the novel mutant in a biological sample, the BCS1L gene mutant can effectively detect that if the biological sample easily suffers Bjornstad syndrome.

Description

technical field [0001] The present invention relates to BCS1L gene mutant and application thereof. Specifically, the present invention relates to isolating nucleic acids encoding BCS1L mutants, isolated polypeptides, screening for susceptible Syndrome biological sample system for screening susceptibility A kit, a construct, a recombinant cell, and a method for constructing a drug screening model for a biological sample of a syndrome. Background technique [0002] The syndrome is characterized by congenital sensorineural hearing loss and curly hair. Hearing loss manifests itself very early in life (usually in the first year). Curly hair, a condition in which the flat, twisted hair shaft makes the hair brittle, develops hair loss in the first two years of life. Fewer than 50 cases have been reported so far. Syndrome is an autosomal recessive genetic disease. The BCS1L gene has been reported as Syndrome causative gene. Although some mutations in this gene have bee...

Claims

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Application Information

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IPC IPC(8): C12N15/12C07K14/47C12M1/34C12Q1/68A01K67/027
Inventor 戴兰兰杨勇刘轩竹林志淼管李萍
Owner BGI SHENZHEN CO LTD
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