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Kit for detecting juvenile osteoporosis based on rs1992011

A technology of rs1992011 and 5.rs1992011, which is applied in the field of kits for juvenile osteoporosis detection, can solve the problems of not being able to be popularized and used on a large scale, and achieve the effects of improving detection accuracy, accurate and qualitative at the same time, and simple steps

Inactive Publication Date: 2019-04-19
刘露
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  • Abstract
  • Description
  • Claims
  • Application Information

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Problems solved by technology

However, due to the need for special instruments, this method cannot be widely used in some poor areas.

Method used

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  • Kit for detecting juvenile osteoporosis based on rs1992011

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Embodiment 1

[0020] Example 1 Obtaining SNP molecular markers

[0021] 1. Selection of samples

[0022] The samples used in the SNP molecular marker analysis of this patent come from two large-scale genome-wide association studies (GWAS) of bone density: 1) UK Biobank Dataset (UK Biobank, UKB). The sample size of this data set is as high as 142487 individuals. Each individual uses quantitative ultrasound technology to determine the heel bone density. At the same time, high-throughput genotyping technology is used to obtain the genotype sequence of the genomic SNP, and the sequence of a large-scale reference sample is used The data fills in the genotype of the untyped SNP genotype sequence to obtain the genotype information of all SNPs in the genome. The original study of UKB analyzed the genetic association between each SNP and bone density, and published the analysis results on the Internet. The download link is (http: / / www.gefos.org); 2) The International Alliance of Osteoporosis Genetic Fac...

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Abstract

The invention discloses a kit for detecting juvenile osteoporosis based on detection of specificity of rs1992011. The kit comprises a specificity primer, a specificity fluorescent probe pair and a common assembly, wherein the specificity primer is used for detecting an rs1992011 SNP site, and the common assembly is used for fluorescent quantitative PCR detection. The kit evaluates the geneticpredisposition of individual osteoporosis by detecting the type of a gene on the single nucleotide polymorphism site on rs1992011 closely related to the genetic disposition of juvenile osteoporosis.

Description

Technical field [0001] The invention belongs to the field of genetic diagnosis, and relates to a kit for detecting juvenile osteoporosis. Background technique [0002] Osteoporosis is a systemic bone disease characterized by decreased bone mineral content and degradation of bone tissue microstructure. Its main harm is to induce osteoporotic fractures, which significantly reduce the quality of life and survival rate of patients. According to reports, only the osteoporotic fracture of the hip joint has a fatality rate of 20% within one year, and about 25% of those who survive for more than one year lose mobility, which is a serious harm. [0003] Osteoporosis and fractures mainly occur in middle-aged and elderly women, especially postmenopausal women. With the aging of our population, the incidence of osteoporosis has jumped to the third place among common chronic diseases. Currently, there are 90 million patients with osteoporosis in my country, and the incidence of fractures cau...

Claims

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): C12Q1/6883C12N15/11
CPCC12Q1/6883C12Q2600/156
Inventor 刘露
Owner 刘露
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