Mutational COL4A5 gene and application thereof

A gene and collagen technology, applied to the mutated COL4A5 gene and its application field, can solve the problems of high time consumption and cost, and achieve the effect of significant genetic heterogeneity

Active Publication Date: 2017-06-30
NANJING GENERAL HOSPITAL NANJING MILLITARY COMMAND P L A
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  • Claims
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AI Technical Summary

Problems solved by technology

[0005] Due to the high clinical and genetic heterogeneity of AS, the traditional Sanger gene detection method consumes a lot of time and cost

Method used

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  • Mutational COL4A5 gene and application thereof
  • Mutational COL4A5 gene and application thereof
  • Mutational COL4A5 gene and application thereof

Examples

Experimental program
Comparison scheme
Effect test

Embodiment Construction

[0038] experimental method:

[0039] 1. Establishment of AS genetic resource bank.

[0040] 1.1 Collect the clinical data and blood samples of the following three types of AS patients:

[0041] 1.1.1 Three or more generations of AS families with X-chromosome-linked dominant inheritance.

[0042] 1.1.2 Collect small families with X-linked dominant inheritance.

[0043] 1.1.3 Collect sporadic cases with negative staining of type IV collagen α5 chain without family history.

[0044] 1.2 Genomic DNA extraction:

[0045] Using TIANamp Blood DNA Extraction Kit (Tiangen Biotech Co. Ltd, Beijing, China), the patient's genomic DNA was extracted from the collected patient's peripheral blood according to the protocol provided by the manufacturer.

[0046] 2. Discover new mutations in the known pathogenic gene COL4A5 of AS.

[0047] 2.1 Design and customize AS-related gene capture chip:

[0048] 2.1.1 Selection of candidate genes:

[0049] The gene trap chip covers four AS-causing ...

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Abstract

The invention discloses a mutational COL4A5 gene and application thereof, in particular to a method for the detection of Alport syndrome mutations of the COL4A5 gene. The encoded IV-type collagen alpha 5 serine on 1371 site is mutated into a terminator under action of mutation of the COL4A5 gene and truncated IV-type collagen alpha 5 chain is caused. The mutational COL4A5 genes or the mutational IV-type collagen alpha 5 chain is used in the preparation of an AS detection agent or a detection device. The detection device preferably comprises a detection platform including a gene chip containing a COL4A5 gene for detecting mutations. The mutational COL4A5 gene provides the pathogenic loci of AS novel pathogenic genes, and provides a new molecular biological basis for the diagnosis of the disease.

Description

technical field [0001] The invention belongs to the field of biomedicine and relates to a mutated COL4A5 gene and its application. Background technique [0002] Alport syndrome (alport syndrome, AS) is a hereditary kidney disease characterized by progressive renal function decline and glomerular basement membrane structural abnormalities with neurological deafness and eye disease. At present, there are three ways of inheritance of AS: X-linked dominant inheritance (XL; about 80%), autosomal recessive inheritance (AR; about 15%) and autosomal dominant inheritance (AD; very few), respectively. It is caused by mutations in the genes COL4A5 (or COL4A5 and COL4A6), COL4A3 and (or) COL4A4 encoding different α chains of type IV collagen. [0003] X-linked genetic disease-causing genes include COL4A5 (or COL4A5 and COL4A6). COL4A5 is located at Xq22 and is the gene most closely associated with AS. Since the first COL4A5 mutation was discovered, more than 400 gene mutations have bee...

Claims

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Application Information

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IPC IPC(8): C12N15/12C07K14/78C12Q1/68G01N33/68
CPCC07K14/78C12Q1/6883C12Q2600/156G01N33/6893G01N2800/347
Inventor 李晓军刘建红刘志红崔英霞魏秀秀高二志李昂夏欣一阿叁
Owner NANJING GENERAL HOSPITAL NANJING MILLITARY COMMAND P L A
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