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Kit for specifically detecting juvenile osteoporosis by detecting rs12408576

A technology of osteoporosis and a kit, applied in the field of genetic diagnosis, can solve the problems that cannot be popularized and used in a large area, and achieve the effect of improving the detection accuracy, simple steps, accurate and qualitative at the same time

Pending Publication Date: 2019-06-04
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 specifically detecting juvenile osteoporosis by detecting rs12408576

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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 specifically detecting juvenile osteoporosis by detecting rs12408576. The kit comprises a specific primer pair and a specific fluorescent probe pair used for detecting the SNP site of the rs12408576, and a conventional assembly used for fluorescent quantitative PCR detection. The kit of the invention evaluates the genetic susceptibility of the individual osteoporosis by simultaneously detecting the genotype of the single nucleotide polymorphism site on the rs12408576 which is closely related to the genetic susceptibility 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. At present, there are as many as 90 million osteoporosis patients i...

Claims

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Application Information

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IPC IPC(8): C12Q1/6883C12N15/11
Inventor 刘露
Owner 刘露
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