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A new nf1 mutation-causing gene and its application and kit

A disease-causing gene and kit technology, which is applied in the field of NF1 new mutation disease-causing genes, applications and kits, can solve problems such as ocular complications that have not yet been identified, and achieve the effects of low cost, mature technology, and reduction of cumbersome procedures.

Active Publication Date: 2021-06-04
THE FIRST AFFILIATED HOSPITAL OF ARMY MEDICAL UNIV
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

Ocular complications due to Lisch nodules are unknown

Method used

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  • A new nf1 mutation-causing gene and its application and kit
  • A new nf1 mutation-causing gene and its application and kit
  • A new nf1 mutation-causing gene and its application and kit

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0035] obtain biological samples

[0036] In 2018, a patient was admitted to the outpatient clinic. The clinical phenotype was: neovascular glaucoma, retinal vascular proliferative tumor, café-au-lait spots on the skin, and clinically suspected neurofibromatosis type 1. The father and grandmother had café-au-lait spots on their skin, and their vision was normal. The mother and sister had normal phenotypes. The samples were peripheral venous blood from patients with the disease and their parents. All family members participating in the research of the present invention signed the informed consent. (boy, age 7, (2011), father, age 32, (1986); mother: age 29 (1990); sister: age, 4 (2015); grandmother: age 57, (1962 year).

[0037] The patient had café-au-lait spots of varying sizes on the face, chest, and abdomen, such as figure 1 As shown, the upper picture is the café-au-lait pattern on the patient’s chest, and the lower picture is the café-au-lait pattern on the patient’s a...

Embodiment 2D

[0041] Example 2DNA Extraction

[0042] Use the high salt precipitation method to extract the genomic DNA in each blood sample, use a spectrophotometer to measure the concentration and purity of the DNA, and obtain the OD of the genomic DNA of each sample 260 / OD 280 They are all located between 1.7-2.0, the concentration is not less than 200ng / microliter, and the total amount is not less than 30 micrograms.

Embodiment 3

[0043] Embodiment 3 primer design and PCR reaction

[0044] With reference to the human genome sequence database, PCR-specific primer pairs corresponding to exons 1-58 of the NF1 gene were designed. The specific content is shown in Table 1, and the sequences corresponding to exons 1-58 are shown in Table 2.

[0045] Table 1 PCR-specific primer pairs corresponding to exons 1-58 of NF1 gene

[0046]

[0047]

[0048]

[0049] Table 2 Genes corresponding to exons 1-58

[0050]

[0051]

[0052]

[0053] Then, prepare the PCR reaction system of each genomic DNA sample according to the following proportions and perform the PCR reaction, wherein the Promga brand Go Green Master Mix, lot number 000242981.

[0054] According to Table 1, according to the sequence of exon 1-58 of NF1 gene, each PCR reaction system of each genomic DNA sample was prepared according to the ratio in Table 3, and the PCR reaction system was 40ul.

[0055] According to Table 1, according...

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PUM

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Abstract

The present invention relates to a new mutation-causing gene of NF1 related to neurofibromatosis type 1 disease, which belongs to the field of molecular biology. The nucleic acid sample of the new mutation-causing gene and the NF1 gene are as shown in SEQ ID NO: 1 Nucleotide change compared to nucleotide sequence: c.738delA; also involves a mutant protein encoded by a new mutation-causing gene. The present invention discloses for the first time that the c.738delA site mutation of NF1 gene is related to neurofibromatosis type 1 disease, and provides the application of the new mutation-causing gene in the preparation of reagents or kits for detecting or screening NF1 lesions. Further provide kits for screening neurofibromatosis type 1 disease, improve more mutation genes of neurofibromatosis type 1 disease, and provide more reliable guidance for timely detection and treatment of patients.

Description

technical field [0001] The invention belongs to the field of mutant genes in biotechnology, and relates to a new mutation-causing gene of NF1, its application and a kit. Background technique [0002] Neurofibromatosis type 1 (NF1) is a genetic disorder characterized by hereditary disorders, and individuals with NF1 are at increased risk for various neoplasms. The NF1 gene is a tumor suppressor gene mutated in the germline of patients with neurofibromatosis type 1 (NF1), the most common tumors including neurofibromas, plexiform neurofibromas, peripheral nerve sheath malignancies, and optic nerve gliomas ; Somatic mutations of NF1 are common in cancer, including melanoma. [0003] NF1 is characterized by pigmented lesions of the skin and eyes, including multiple cutaneous neurofibromas, café-au-lait spots, axillary and inguinal lentigo, choroidal lentigo, and iris Lisch nodules. Lisch nodules are melanocytic hamartomas of the eye that appear as well-defined dome-shaped papul...

Claims

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Application Information

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Patent Type & Authority Patents(China)
IPC IPC(8): C12N15/12C07K14/47C12Q1/6886
CPCC07K14/4703C12Q1/6886C12Q2600/156
Inventor 余涛孟晓红刘沙齐冬梅任佳云
Owner THE FIRST AFFILIATED HOSPITAL OF ARMY MEDICAL UNIV
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