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Kit for detecting juvenile osteoporosis based on rs8071778

An osteoporosis and kit technology, which is applied in the field of genetic diagnosis, can solve the problem of not being able to be widely used in a large area, and achieve the effect of improving the detection accuracy, accurate, qualitative and accurate.

Pending Publication Date: 2019-04-23
刘露
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  • Summary
  • 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 rs8071778

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Embodiment 1

[0020] Example 1 Obtaining of SNP molecular markers

[0021] 1. Selection of samples

[0022] The samples used for 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 142,487 individuals, and each individual has measured heel bone mineral density using quantitative ultrasound technology, while using high-throughput genotyping technology to obtain genotype sequences of genomic SNPs, and using sequences of large-scale reference samples Genotype imputation is performed on the untyped SNP genotype sequence of the data, so as to obtain the genotype information of all SNPs on 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 URL is (http: / / www.gefos.org); 2) International Federation of Osteoporosis ...

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Abstract

The invention discloses a kit for detecting juvenile osteoporosis in a specificity mode by detecting rs8071778. The kit comprises a specific primer pair, a specific fluorescence probe pair, a conventional assembly used for fluorescent quantitative PCR detection and the like, wherein the specific primer pair and the specific fluorescence probe pair are used for detecting the SNP site of number rs8071778. The kit evaluates the genetic predisposition of individual osteoporosis by detecting a single nucleotide polymorphism site gene type on the rs8071778 closely related to the genetic predisposition of the juvenile osteoporosis.

Description

technical field [0001] The invention belongs to the field of gene diagnosis and relates to a kit for juvenile osteoporosis detection. Background technique [0002] Osteoporosis is a systemic skeletal disease characterized by decreased bone mineral content and microstructural deterioration of bone tissue. Its main hazard is the induction of 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 mortality rate of 20% within 1 year, and about 25% of those who survive for more than 1 year lose their ability to move, which is a serious hazard. [0003] Osteoporosis and fractures mainly occur in middle-aged and elderly people, especially postmenopausal women. With the aging of my country's population, the incidence of osteoporosis has jumped to the third place among common chronic diseases. Currently, there are as many as 90 million osteoporosis patients in...

Claims

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Application Information

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