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Deafness-causing porcine KIT mutant gene and application thereof

A technology for mutating genes and genes, applied in the field of pig KIT mutating genes, can solve problems such as unseen large animal models

Active Publication Date: 2016-12-07
ARMY MEDICAL UNIV
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

So far, there have been no reports on large animal models of KIT gene mutations

Method used

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  • Deafness-causing porcine KIT mutant gene and application thereof
  • Deafness-causing porcine KIT mutant gene and application thereof
  • Deafness-causing porcine KIT mutant gene and application thereof

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0063] Embodiment 1, the establishment of deaf pig genetic family

[0064] Using my country's Bama pig as a model animal, a high-throughput random mutagenesis of the pig genome was carried out using a strong chemical mutagen ethanenitrosourea (ENU), and a highly stable dominant heredity, albino coat color was obtained. A genetic pedigree of deaf pigs.

[0065] The specific process is as follows:

[0066] (1) Carry out ENU chemical mutagenesis to the G0 generation Bamaxiang pig boars, inject ENU intravenously at a concentration of 75 mg / kg, and inject once a week, a total of 3 times, so that they can produce sperm carrying gene mutations;

[0067] (2) After the boar recovered for one month, it was mated with wild-type sows to obtain G1 offspring. Through large-scale phenotype screening of the G1 generation, a boar with severe deafness and abnormal pigment distribution was obtained;

[0068] (3) Using the G1 boar to mate with 10 normal sows, 63 individuals of the G2 generation ...

Embodiment 2

[0075] Embodiment 2, characteristic analysis of deafness pig genetic family

[0076] (1) Observation of the albino phenotype of mutant pigs

[0077] figure 1 These are the appearance phenotypes of normal Bama pigs and mutant Bama pigs. The results showed that the normal Bama pig showed the typical "two-headed black" characteristics, that is, the head and buttocks were black, and the other parts were white; while the mutant individual showed a small amount of black spots on the head, and the other parts were all white, and the other parts were white. It also shows the characteristics of iris lightening, and the area outside the pupil of the cornea is obviously lighter than the brown color of ordinary Bama pigs, showing light blue.

[0078] (2) Detection of hearing phenotypes in mutant pigs

[0079] Mutant Bamaxiang pigs all showed congenital hearing loss and did not respond to sound stimuli. One-month-old Bama pigs and normal Bama pigs were respectively anesthetized by intr...

Embodiment 3

[0100] Example 3, Mapping of Pathogenic Genes in Deaf Pig Genetic Pedigrees

[0101] Genome-wide association analysis to determine the disease-causing genes and mutation sites:

[0102] The first boar of the G1 generation was mated with 3 wild-type sows, and 29 G2 offspring were obtained. A total of 33 individuals (including 16 abnormal and 17 normal) of the above-mentioned G1 boars, wild-type sows and G2 offspring were collected DNA samples It was used for family linkage analysis, and PorcineSNP60v2Genotyping BeadChip was used for genome-wide SNP typing, and Merlin and PLINK software were used for analysis. Among the 62,163 SNPs on the chip, there are 61,565 SNPs with a call rate (detection rate) greater than 95%. The results show that there is the most significant SNP locus association at chromosome 8 31M-48M ( Figure 6 , 7), and the KIT gene associated with porcine albinism is just located in this region, so we took the KIT gene as a disease-causing candidate gene for ful...

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Abstract

The invention relates to the technical field of biology, particularly a deafness-causing porcine KIT mutant gene and application thereof. The invention is characterized in that the porcine KIT mutant gene has a c.2418T>A mutation as compared with the wild type KIT gene. The porcine KIT mutant gene can cause porcine deafness and appears dominant inheritance. When being used for preparing a deafness animal model and researching the deafness pathogenesis, the mutation has significant clinical instruction meanings for prevention, diagnosis and treatment of deafness.

Description

technical field [0001] The invention relates to the field of biotechnology, in particular to a deaf-causing porcine KIT mutant gene and application thereof. Background technique [0002] The KIT gene is a proto-oncogene that belongs to the platelet-derived growth factor (PDGF) and colony-stimulating factor (CSF-1) receptor family, encoding the mast / stem cell growth factor receptor (mast / stem cell growth factor receptor), the receptor Belonging to the tyrosine kinase receptor (PTKs) family, it is the precursor of melanocytes derived from neural crest cells, and its normal migration and survival depend on KIT. The KIT gene plays an important role in the proliferation and differentiation of normal hematopoietic cells, mast cells, and melanocytes, as well as the proliferation, malignant evolution, and apoptosis of tumor cells. KIT genes are highly conserved among species. KIT is often expressed in the intermediate cells of the stria vascularis and the spiral ganglion of the in...

Claims

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Application Information

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IPC IPC(8): C12N15/12C12N5/10C12N15/01A01K67/027C12Q1/68C12N15/11
Inventor 魏泓李亮刘宇商海涛王勇周琪赵建国杨仕明郭维维曹春伟
Owner ARMY MEDICAL UNIV
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