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Cranial clavicle dysplasia pathogenic RUNX2 new mutation site gene, polypeptide and application

A mutation site and dysplasia technology, applied in the field of molecular biology, can solve the problems of insufficient screening and verification analysis of pathogenic genes

Inactive Publication Date: 2022-01-21
SHANDONG UNIV QILU HOSPITAL
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Problems solved by technology

[0006] Although there have been many researches on the RUNX2 gene that causes cranioclavicular dysplasia, the current screening, verification and analysis of the disease-causing gene is far from enough, and there are still unknown pathogenic gene loci

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  • Cranial clavicle dysplasia pathogenic RUNX2 new mutation site gene, polypeptide and application
  • Cranial clavicle dysplasia pathogenic RUNX2 new mutation site gene, polypeptide and application
  • Cranial clavicle dysplasia pathogenic RUNX2 new mutation site gene, polypeptide and application

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[0087] Such as Figure 1 to Figure 4 As shown, in the embodiment of the present invention, the venous blood samples of the proband and his father and mother were collected, and whole exome sequencing (WES) was performed on the venous blood DNA. Genomic DNA fragmentation, paired adapter ligation, amplification and purification, The Exome Research Group captures 50 bp of bases in all human exons and their adjacent introns. After capture, the DNA library is amplified and purified, and then sequenced by the Illumina HiSeq sequencing platform.

[0088] All detection and sequence analysis were provided by Beijing Fujun Gene Biotechnology Co., Ltd.

[0089] The patient (proband) was born normal with no obvious clinical symptoms. At the age of 2, she found that her growth was slower than her peers. At the age of 12, her deciduous teeth fell out. By the age of 15, 3 teeth had been replaced. The reaction is OK, and the intelligence is normal. On the patient's physical examination,...

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Abstract

The invention provides a cranial clavicle dysplasia pathogenic RUNX2 new mutation site gene, polypeptide and application, and belongs to the technical field of biological medicine. The nucleotide sequence of the RUNX2 new mutation site gene is deletion of the 1550 basic group T of the nucleotide sequence of a wild RUNX2 gene. According to the cranial clavicle dysplasia pathogenic RUNX2 new mutation site gene, an existing RUNX2 protein mutation database is perfected, and the mechanism of cranial clavicle dysplasia caused by RUNX2 mutation is explained; a method for screening a biological sample of cranial clavicle dysplasia, a system for screening the biological sample of cranial clavicle dysplasia, a kit for screening the biological sample of cranial clavicle dysplasia, and a method for screening a drug for treating or preventing cranial clavicle dysplasia diseases are provided; and the kit can be used for clinically detecting the RUNX2 mutant gene and provides a rapid, reliable and accurate new way for diagnosing cranial clavicle dysplasia, and new gene locus identification lays a solid foundation for discussing a molecular genetics mechanism of RUNX2 pathopoiesis.

Description

technical field [0001] The invention relates to the technical field of molecular biology, in particular to a new mutation site gene, polypeptide and application of cranioclavicular dysplasia causing disease RUNX2. Background technique [0002] The formation and reconstruction of bones are mainly the differentiation, proliferation and formation of extracellular matrix of osteoprogenitor cells and cartilage progenitor cells. These processes are inseparable from the activation and inhibition of a series of related genes. Transcription factors play an important role in regulating these genes . [0003] The dynamic balance between osteoblasts and osteoclasts is the basis for normal tooth eruption. If the balance is out of balance, it will lead to tooth eruption disorder. Cranioclavicular dysplasia (Cleidocranial Dysplasia, CCD) is a typical tooth eruption disorder disease, which belongs to the An autosomal dominant genetic disorder of bones and teeth, with high penetrance and di...

Claims

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): C12N15/12C07K14/47C12Q1/6883
CPCC12Q1/6883C12Q2600/156G01N33/6893G01N2800/10G01N2800/50G01N2333/4703Y02A50/30
Inventor 任建民龚蕾刘福强孙玉静
Owner SHANDONG UNIV QILU HOSPITAL
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