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Mutant gene and application thereof
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A technique for mutating genes and genes, applied in the field of constructing miniature pig models of SLC13A1 mutated genes, skeletal dysplasia, achondroplasia or short-limbed dwarfism, to achieve the effect of increasing complexity
Pending Publication Date: 2022-03-15
INST OF ZOOLOGY CHINESE ACAD OF SCI
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Skeletal development in mice is not the same as in humans, so there are some limitations in studying diseasepathology
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Embodiment 1
[0047] Example 1 Construction of Bama miniature pig genetic family with skeletal dysplasia, achondroplasia or short-limbed dwarfism stand
[0048] 1) ENU was injected into 15 Guangxi Bama miniature pig boars, the injection dose was 65 mg / kg, and the injection frequency was once a week for three consecutive weeks.
[0051] 3) A total of 147 male miniature pigs of the F1 generation described in step 2) were mated with wild-type female miniature pigs of the same species respectively to obtain F2 generation miniature pigs;
[0052] 4) mating the F1 generation miniature pigs described in step 2) with the F2 generation sows described in step 3) to obtain ...
Embodiment 2
[0057] Example 2 Genes of skeletal dysplasia, achondroplasia or short-limbed dwarfism Bama miniature pig genetic family localization due to mutation
[0058] Through genetic linkage analysis and gene cloning sequencing of F3 generation pigs to determine the mutation position, extract the DNA of F3 generation pig ear tissue, and design primers for PCR reaction, electrophoresis separation of PCR products, and obtain the closely linked SLC13A1 gene locus mutation site.
[0060] ①Put an appropriate amount of ear tissue into a 1.5ml centrifuge tube, cut it into pieces with small scissors, add 500 μL of SNET solution and 10 μL of proteinase K, and digest in a shaker at 55°C and 200rmp overnight;
[0061] ②After the tissue digestion is complete, centrifuge at 12000rmp for 1min to precipitate the hair, and transfer the supernatant to a new 1.5ml EP tube;
[0083] Example 3 Characteristics of Bama miniature pig genetic family with skeletal dysplasia, achondroplasia or short-limb dwarfism Symptom analysis
[0084] The miniature pig model with skeletal dysplasia, achondroplasia or short-limb dwarfism of the present invention is realized through phenotype observation and X-ray detection.
[0085] Phenotype analysis results show that the miniature pigs of the present invention have short bones.
[0086] The results of X-ray examination of the skin are as follows: image 3 As shown, compared with the wild-type Bama piglets, the bones of the forelimbs and hindlimbs of the mutant short-legged pig group were significantly shortened, showing the characteristics of short limbs.
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Abstract
The invention provides an SLC13A1 mutantgene of a miniature pig, and compared with an SLC13A1 gene of a wild type pig, the mutantgene has mutation of p.W47R. The invention provides a construction body, and the construction body comprises the SLC13A1 mutant gene. The invention also provides a recombinant cell, and the recombinant cell is obtained by transforming a recipient cell by the construct. The invention provides a method for preparing a miniature pig model for skeletal dysplasia, cartilagehypoplasia or short-limb dwarfism. The SLC13A1 mutant gene provided by the invention is used for preparing a pig model of skeletal dysplasia, cartilagehypoplasia or short-limb dwarfism, and the pathogenesis of skeletal dysplasia, cartilagehypoplasia or short-limb dwarfism of human or animals is researched; the method has important guiding significance for clinical prevention, diagnosis and treatment of human or animal skeletal dysplasia, cartilage hypoplasia or short-limb nanism.
Description
technical field [0001] The invention belongs to the field of genetic engineering. Specifically, the present invention relates to a SLC13A1 mutant gene. The present invention also relates to the use of the mutant gene in constructing a miniature pig model of skeletal dysplasia, achondroplasia or short-limbed dwarfism and a method for constructing a miniature pig model of skeletal dysplasia, achondroplasia or short-limbed dwarfism . Background technique [0002] Minipigs are a very good animal model that can be used to study the etiology, molecular mechanism and treatment of human diseases. Bama pig is a unique local pig breed in my country, mainly produced in Guangxi Province, China. In appearance, Bama pig shows the typical "two-headed black" feature, that is, the hair on the head, buttocks and tail is black, while the other parts are white. In recent years, due to its small size and similar anatomical structure to humans, Bama pigs have gradually been recognized by scien...
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