GNAS mutant gene and application thereof

A technique for mutating genes and genes, applied in the fields of leukemia, cell biology, and molecular genetics

Inactive Publication Date: 2010-09-08
SHANGHAI NINTH PEOPLES HOSPITAL AFFILIATED TO SHANGHAI JIAO TONG UNIV SCHOOL OF MEDICINE
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

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Problems solved by technology

However, there are no reports on the mutation sites of other genes

Method used

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  • GNAS mutant gene and application thereof
  • GNAS mutant gene and application thereof
  • GNAS mutant gene and application thereof

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0053] Discovery process of a new mutation site C200R in GNAS gene in patients with fibrous dysplasia

[0054] (1) The general diagnosis of FD in patients

[0055] The patient was admitted to the hospital due to tibial fracture. According to the previous medical history, patient complaints, clinical symptoms and signs, combined with X-ray film ( figure 1 ), the initial diagnosis was FD, but diseases such as ossifying fibroma and intramedullary well-differentiated osteosarcoma could not be completely ruled out.

[0056] (2) Microscopic diagnosis of patient FD

[0057] Ultimately, the patient underwent surgery with the goals of removing the symptomatic lesion, correcting the deformity, and preventing pathological fractures. During the operation, we collected the removed lesion tissue, fixed it in 4% paraformaldehyde, embedded it in paraffin, and made a pathological section of the lesion tissue with a tissue slicer. Then, the section was stained with H&E and examined under a mi...

Embodiment 2

[0069] C200R Biological Function Experiments

[0070] 1. Construction of pcDNA3.1(+)-c-myc-GNAS1 expression vector

[0071] Human MSCs were placed in low-glucose α-MEM complete medium at 37°C and 5% CO 2 Incubator incubation. At 95% confluence, discard the medium and wash the cells twice with ice-cold PBS. Scrape the cells into PBS, collect the cells by centrifugation at 300g at 4°C for 5 minutes, discard the supernatant, and add 1ml Trizol to fully lyse the cells until they become clear. Let stand at room temperature for 5 minutes, add 0.2ml of chloroform per 1ml of Trizol, shake vigorously for 15 seconds, let stand at room temperature for 2-3 minutes, and centrifuge at 12000g at 4°C for 15 minutes. Afterwards, the phase separation of the sample can be seen, and the uppermost aqueous phase is transferred for later use. Add 0.5ml of isopropanol to every 1ml of Trizol, mix well, let stand at room temperature for 10 minutes, centrifuge at 12000g at 4°C for 10 minutes, discar...

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Abstract

The invention relates to a new mutant site for a GNAS gene in the fibrous dysplasia (FD) patients, wherein the mutant site for the GNAS gene is positioned at the six-hundredth nucleotide from the end 5' in the GNAS gene; and the mutation results in that T is mutated into C. The invention also provides a kit for detecting the GNAS mutant gene serving as one of the major genes for the fibrous dysplasia, application of the GNAS new mutant gene and application of the kit. The mutant gene and the application have the advantages that: 1, a new target point is provided for prenatal screening of FD; 2, the new target point is provided for the molecular diagnosis of FD; and 3, the new target point is provided for the gene therapy of FD.

Description

【Technical field】 [0001] The invention relates to the fields of molecular genetics, cell biology and leukemia. Specifically, the present invention relates to a new mutation site of GNAS gene in patients with fibrous dysplasia and its application. 【Background technique】 [0002] Fibrous dysplasia (FD) is a non-hereditary disease, accounting for 2.5% of all bone tumors and 5%-7% of benign bone tumors. It was first reported by Lichtenstein in 1938. Clinically, it can be divided into monoosseous type and polyosseous type. The monoosseous type is more common, but the polyosseous type has a wider range of lesions and has a more serious impact on patients. Bony FD is accompanied by skin pigmentation, endocrine hyperactivity (such as gigantism and acromegaly caused by pituitary dysfunction, hyperthyroidism, parathyroid enlargement, gynecomastia, adrenal hyperfunction, etc.) and Precocious puberty (early menstruation in female children with early development of pubic hair, armpit h...

Claims

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Application Information

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IPC IPC(8): C12N15/12C12Q1/68
Inventor 范启明汤亭亭岳冰
Owner SHANGHAI NINTH PEOPLES HOSPITAL AFFILIATED TO SHANGHAI JIAO TONG UNIV SCHOOL OF MEDICINE
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