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Human idiopathic basal ganglia calcification disease-causing gene and coding protein thereof

An idiopathic, human technology applied in the direction of genetic engineering, animal/human peptides, plant genetic improvement, etc., which can solve problems such as loss, dementia of intellectual and conscious performance, impaired motor ability, etc.

Inactive Publication Date: 2013-01-23
WUHAN TOAZHI LIFE TECH
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

The patient's motor ability is gradually impaired or lost, and his intelligence and consciousness manifest dementia, epilepsy, mental disorders, etc. There is currently no targeted drug treatment for this disease

Method used

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  • Human idiopathic basal ganglia calcification disease-causing gene and coding protein thereof
  • Human idiopathic basal ganglia calcification disease-causing gene and coding protein thereof
  • Human idiopathic basal ganglia calcification disease-causing gene and coding protein thereof

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0033] Example 1: Fine Mapping of IBGC3 Pathogenic Sites

[0034] 1. Family collection and identification: The inventor collected the second autosomal dominant IBGC family (8 patients in four generations, the brain CT of the proband as shown in figure 1 , Symmetrical basal ganglia calcium deposits, serum biochemical indicators were normal, in line with the clinical features of IBGC. Pedigree diagram such as figure 2 b) Peripheral blood samples.

[0035] 2. Genomic DNA extraction: Genomic DNA from peripheral blood samples was extracted using the Wizard Genomic DNA Extraction Kit from Promega, USA.

[0036] 3. Linkage analysis of IBGC pathogenic loci: Firstly, linkage analysis of the microsatellite markers in the three reported IBGC locus regions was carried out, and the linkage between the pathogenic genes of this family and IBGC1 and IBGC2 regions was excluded. The pathogenic gene of the second IBGC family was preliminarily located at the IBGC3 locus. For the upstream and...

Embodiment 2

[0038] Embodiment 2: Cloning of IBGC pathogenic gene

[0039] 1. Screening of candidate genes

[0040] According to the pathological mechanism of basal ganglia calcification and the characteristics of gene structure and function, the inventor preferentially selects genes related to brain expression and nervous system abnormalities as candidate genes. The inventor selects in the mapped IBGC segment (8p12-q11. 41 candidate genes UNC5D, ZNF703, KCNU1, ERLIN2, PROSC, RAB11FIP1, EIF4EBP1, ASH2L, LSM1, BAG4, DDHD2, PPAPDC1B, WHSC1L1, LETM2, ADAM9, ADAM2, ZMAT4, GOLGA7, AGPAT6, NKX6-3, ANK1, PLAT, IKBKB, DKK4, UDAC3, SLC20A2, CHRNB3, CHRNA6, POLB, THAP1, SGK196, HGSNAT, MCM4, EFCAB1, SNAI2, CEBPD, UBE2V2, SNTG1, PXDWL, PCMTD1 and ST18.

[0041] 2. Genomic DNA extraction: Genomic DNA from peripheral blood samples was extracted using the Wizard Genomic DNA Extraction Kit from Promega, USA.

[0042] 3. Sequence the candidate genes

[0043] The inventor uses Primer5 software design (a...

Embodiment 3

[0078] Example 3: Detection of mutations in IBGC pathogenic genes

[0079] In order to verify the mutation of the present invention, we carried out detailed clinical examination on the collected IBGC family members, including brain CT, serum calcium, phosphorus, thyroxine, vitamin D, uric acid, alkaline phosphatase and parathyroid hormone in plasma And other inspections to determine the patients and normal people in the family, and collected 604 cases of normal people outside the family. All family members who participated in the survey and were blood samples were informed about the purpose and significance of this study and gave informed consent.

[0080] 1. Genomic DNA extraction, as described above.

[0081] 2. Detection of SLC20A2 gene mutation by using mismatched primers to create restriction sites

[0082] The inventor found 6 missense mutations and 2 base deletion mutations in the SLC20A2 gene in an autosomal dominant IBGC family, none of which could change the restri...

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Abstract

The invention provides a variant human SLC20A2 gene and discloses that the variant human SLC20A2 gene is idiopathic basal ganglia calcification disease-causing gene. By utilizing the variant human SLC20A2 gene, diagnosis and risk evaluation can be carried out on idiopathic basal ganglia calcification disease. The invention also provides a protein coded by the variant human SLC20A2 gene, and the protein can be taken as a drug target for treating basal ganglia calcification. Besides, the invention also provides a kit used for diagnosing the idiopathic basal ganglia calcification disease and an application of the variant human SLC20A2 gene in preparation of a human idiopathic basal ganglia calcification disease gene diagnosis chip.

Description

technical field [0001] The invention relates to a human body variation gene, that is, the human idiopathic basal ganglia calcification (IBGC) pathogenic gene SLC20A2. The present invention also relates to the function and significance of the variant gene and its coded protein in detection and as a drug target for treating IBGC diseases. Background technique [0002] Idiopathic Basal Ganglia Calcification (IBGC), commonly known as Fahr's disease, is a congenital extrapyramidal disease of the nervous system, and the detection rate of brain X-ray computerized tomography (CT) is 1-2% [1-2] . Most IBGC families show autosomal dominant inheritance, and there are also reports of autosomal recessive inheritance and sex chromosome linkage inheritance. IBGC disease manifests as bilateral symmetrical basal ganglia calcifications on CT. The order of occurrence of common calcification sites is globus pallidus, caudate nucleus, putamen, thalamus, bottom of frontoparietal gyrus, dentate...

Claims

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Application Information

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IPC IPC(8): C12N15/12C12Q1/68C07K14/47
Inventor 刘静宇张学王程李雨雷石磊任杰
Owner WUHAN TOAZHI LIFE TECH
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