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Primer and probe composition and kit for detecting achondroplasia related FGFR3 gene variation sites

A technology for achondroplasia and gene mutation, which is applied in recombinant DNA technology, microbial determination/inspection, biochemical equipment and methods, etc. It can solve problems such as difficulty in meeting actual needs, complexity and time-consuming Sanger sequencing method, and achieve high accuracy. , low false positive rate, and the effect of reducing the birth rate

Pending Publication Date: 2022-01-28
BEIJING JISHUITAN HOSPITAL +1
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

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Problems solved by technology

[0006] The present invention aims at the problem that the current clinical Sanger sequencing method is complicated and time-consuming, and is difficult to meet the actual needs. The present invention provides a primer and probe composition and a kit for detecting achondroplasia-related FGFR3 gene variation sites

Method used

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  • Primer and probe composition and kit for detecting achondroplasia related FGFR3 gene variation sites
  • Primer and probe composition and kit for detecting achondroplasia related FGFR3 gene variation sites
  • Primer and probe composition and kit for detecting achondroplasia related FGFR3 gene variation sites

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Embodiment 1

[0032] This embodiment relates to a kit for detecting achondroplasia-associated FGFR3 gene mutation sites, which contains a PCR reaction for detecting NM_000142.5:exon10:c.1138G>A:p.Gly380Arg mutation sites System and PCR reaction system for detection of NM_000142.5:exon10:c.1138G>C:p.Gly380Arg mutation site. The mutation probe common to two mutation sites is referred to as probe WT, and the mutation probe of NM_000142.5:exon10:c.1138G>A:p.Gly380Arg is referred to as probe Mut1, NM_000142.5:exon10:c.1138G>C The mutation probe of p.Gly380Arg is referred to as probe Mut2.

[0033] The respective primers of the DNA template containing the NM_000142.5:exon10:c.1138G>A:p.Gly380Arg mutation site and the DNA template containing the NM_000142.5:exon10:c.1138G>C:p.Gly380Arg mutation site are shown in the table 1, and the probes for the variant sites are shown in Table 2.

[0034] Table 1 Primers

[0035]

[0036] Table 2 Probes

[0037]

[0038]

[0039] 1. The system conf...

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Abstract

The invention discloses a primer and probe composition and a kit for detecting achondroplasia related FGFR3 gene variation sites. The related FGFR3 gene variation sites comprise a first site and a second site, wherein the first site is NM_000142.5: exon10: c.1138G > A: p.Gly380Arg, and the second site is NM_000142.5: exon10: c.1138G > C: p.Gly380Arg; the nucleotide sequence of an upstream primer of the first site and the second site is as shown in SEQ ID NO.1, and the nucleotide sequence of a downstream primer of the first site and the second site is as shown in SEQ ID NO.2; the nucleotide sequence of a wild probe at the first site and a wild probe at the second site is shown as SEQ ID NO.3, and the nucleotide sequence of a mutation probe at the first site is shown as SEQ ID NO.4; and the nucleotide sequence of a mutation probe at the second site is as shown in SEQ ID NO.5. The primer and probe composition is high in accuracy, low in false positive rate, low in cost, free of high-end instruments, simple in result interpretation, suitable for general screening and capable of reducing the birth rate of children suffering from achondroplasia.

Description

technical field [0001] The invention belongs to the technical field of achondroplasia diagnosis, and in particular relates to a primer and probe composition and a kit for detecting achondroplasia-related FGFR3 gene variation sites. Background technique [0002] Achondroplasia (ACH) is the most common bone dysplasia with an incidence rate of 1 / 77000-1 / 15000. It is an autosomal dominant genetic disease with a penetrance rate of 100%. Nearly all cases of achondroplasia are caused by two pathogenic variants in the FGFR3 gene, c.1138G>A (approximately 98%) and c.1138G>C (approximately 1%), so both variants are tested It can assist in the diagnosis of 99% of patients with achondroplasia. These two mutations lead to the change of glycine at position 380 of the transmembrane domain of FGFR3 to arginine (G380R), which permanently activates the FGFR3 receptor, inhibits chondrocyte proliferation, and ultimately leads to impaired endochondral bone formation, growth restriction, a...

Claims

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): C12Q1/6883C12Q1/6851C12N15/11
CPCC12Q1/6883C12Q1/6851C12Q2600/156C12Q2531/113C12Q2561/101
Inventor 蒋协远苟默邓微魏星
Owner BEIJING JISHUITAN HOSPITAL
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