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Primer composition and primers of osteogenesis imperfecta virulence gene COL1A1 and application thereof

A technology of COL1A1-F and primer composition, which is applied in the field of medical testing, can solve the problems of inapplicability to large-scale promotion, long time-consuming, high cost, etc., and achieve the effect of low detection cost, simple operation and simple operation steps for a single sample

Pending Publication Date: 2019-06-28
苏州恩科金生物科技有限公司 +1
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

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Problems solved by technology

[0005] The present invention mainly aims at the problems that the existing prenatal detection of osteogenesis imperfecta gene COL1A1 takes a long time, is expensive and is not suitable for large-scale promotion, and provides a primer composition and probe for osteogenesis imperfecta pathogenic gene COL1A1

Method used

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  • Primer composition and primers of osteogenesis imperfecta virulence gene COL1A1 and application thereof
  • Primer composition and primers of osteogenesis imperfecta virulence gene COL1A1 and application thereof
  • Primer composition and primers of osteogenesis imperfecta virulence gene COL1A1 and application thereof

Examples

Experimental program
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Effect test

Embodiment 1

[0051] Such as figure 1 , 2 A prenatal detection kit for osteogenesis imperfecta causative gene COL1A1 includes a box body 1 with an inner cavity and a box cover connected to the rear side wall of the box body 1, the box body 1 is a cuboid, It is helpful for the kit to be placed in the refrigerator to avoid wasting storage space. A partition 2 is arranged horizontally inside the box body 1. The partition board 2 divides the inside of the box body 1 into two small slots. The small slot at the back is The light-shielding tank 3, the front small tank is a reagent tank 4, the light-shielding tank 3 is provided with a fixed layer I5, the reagent tank 4 is provided with a fixed layer II6, and the fixed layer I5 is provided with two rows of small holes Ⅰ7, each row of small holes I7 is set at 9 equal intervals, and the upper right side of the fixed layer II6 is provided with two rows of small holes II8, each row of small holes II8 is set at equal intervals to 6, and the left side of...

Embodiment 2

[0076] The clinical application of embodiment 2 kits

[0077] Peripheral blood samples from 10 pregnant women with osteogenesis imperfecta and 10 normal pregnant women were collected (provided by Beijing People's Hospital and Shanghai Sixth People's Hospital). Digital PCR was performed on the cfDNA of 20 samples to analyze the mutation of the pathogenic site rs72656353 of the osteogenesis imperfecta gene COL1A1. The specific operation steps are as follows:

[0078] Step 1: Use the EpiQuik Circulating Cell-Free DNA Isolation Kit to extract cfDNA in the serum. The cfDNA of the sample is measured by a microquantifier. The ratio of OD260 / OD280 is between 1.7-2.0, and the concentration of genomic DNA is 10-20ng / μl. .

[0079] Step 2: Use the kit described in Example 1 to detect, the reagents in the kit are mainly composed of 5 components, which are:

[0080] (1) Primer mix for COL1A1 gene rs72656353:

[0081] Upstream primer COL1A1-F; 5'GCGTACACCACCGTTCA 3' (SEQ ID No.1),

[008...

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Abstract

The invention relates a detection kit, in particular to a primer composition and probes of an osteogenesis imperfecta virulence gene COL1A1 and application thereof, and belongs to the technical fieldof medical detection. According to the primer composition and primers of the osteogenesis imperfecta virulence gene COL1A1, the upstream primer COL1A1-F has the nucleotide sequence shown in SEQ ID No.1, the downstream primer COL1A1-R has the nucleotide sequence shown in SEQ ID No.2, the COL1A1 gene rs72656353 probe has the nucleotide sequence shown in SEQ ID No.3, and the internal reference probehas the nucleotide sequence shown in SEQ ID No.3.

Description

technical field [0001] The invention relates to a detection kit, in particular to a primer composition, probe and application of the osteogenesis imperfecta pathogenic gene COL1A1, belonging to the technical field of medical detection. Background technique [0002] Osteogenesis imperfecta (OI) is a congenital bone development disorder, also known as brittle bone disease or brittle bone-blue sclera-deafness syndrome. It is mainly characterized by low bone mass, increased bone fragility, and repeated fractures. It can also present complex extraskeletal manifestations such as blue sclera, dentin hypoplasia, laxity of joint ligaments, hearing loss, heart valve disease, and short stature. A congenital hereditary disease caused by mesenchymal tissue hypoplasia and collagen formation disorder. [0003] Osteogenesis imperfecta is a group of monogenic inherited bone diseases with phenotypic heterogeneity, and its prevalence rate is 1 / 10000-20000 newborns. According to the phenotype...

Claims

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Application Information

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IPC IPC(8): C12Q1/6883C12Q1/6858C12N15/11C12M1/00
Inventor 张惠丹戴敬孙培亚
Owner 苏州恩科金生物科技有限公司
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