PALB 2 gene susceptibility SNP locus detection composition

A composition and gene technology, applied in the direction of DNA/RNA fragment, recombinant DNA technology, microbial determination/inspection, etc., can solve the problems of inability to use gene detection, easy contamination, long sequencing cycle, etc., and achieve intuitive and clear interpretation results. Good accuracy and repeatability, clear and objective result interpretation

Active Publication Date: 2015-06-10
JIANGSU MICRODIAG BIOMEDICINE TECH CO LTD
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  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

[0005] At present, the commonly used SNP site mutation detection methods mainly include the following: Fluorescent quantitative PCR technology, which has high sensitivity, specificity, and high degree of automation, but there will be sample contamination and high false positives, and each time Can only detect one type
Restriction small fragment length polymorphism analysis (RFLP) is used to detect genes with altered restriction sites, and can directly determine the genotype, but it cannot be used for the detection of genes without new restriction sites; in addition, the RFLP experimental operation Complicated, long detection cycle, high cost, false positive, non-closed tube operation, easy to contamination, difficult to meet clinical detection requirements
In the first-generation DNA sequencing method, the sequences close to the primers at both ends are easy to be inaccurate, and the sequencing cycle is long, the operation is complicated, easy to be polluted, and the cost is high, so this method is difficult to meet the needs of practical applications

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  • PALB 2 gene susceptibility SNP locus detection composition
  • PALB 2 gene susceptibility SNP locus detection composition
  • PALB 2 gene susceptibility SNP locus detection composition

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0050] Example 1: PALB2 Gene Mutation Screening in Patients with Breast Cancer

[0051] 1. Experimental materials

[0052] 1. The 25 clinical blood samples involved in this experiment came from the First Affiliated Hospital of Zhejiang University School of Medicine. Immediately after sample collection, store in a -80°C refrigerator.

[0053] 2. The purity of all primers should reach electrophoresis grade (PAGE) or HPLC grade, free of impurities. Provide the quality inspection certificate of the synthetic product issued by the synthesis institution, such as PAGE electrophoresis results or HPLC analysis patterns, which prove that there should be obvious single-peak PAGE or HPLC purification patterns after purification by PAGE or HPLC, and the concentration is 10ng / μl for use.

[0054] 3. All reagents were purchased from regular manufacturers: multiplex PCR enzyme (KAPA), Ampure magnetic beads (Beckman Coulter), PGM Template OT2kit, PGM Sequencing OT2kit (Life Technologies).

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Abstract

The invention discloses a PALB 2 gene susceptibility SNP locus detection composition. The PALB gene susceptibility SNP locus detection composition comprises a primer of SEQ NO:1-SEQ NO:206. The PALB 2 gene susceptibility SNP locus detection composition has the advantages that 372 susceptibility SNP loci of a PALB gene can be detected, for the susceptibility SNP loci relative to breast cancer, the detection throughput is high, the specificity is strong, the pollution is not prone to occur, and the safety is high, the detection result has good accuracy and repeatability, and certain auxiliary diagnosis and implication effects are achieved for susceptible population of the breast cancer, especially for crowd with family heredity of the breast cancer.

Description

technical field [0001] The invention relates to the field of gene detection, in particular to a composition for detecting SNP sites of PALB2 gene. Background technique [0002] Breast cancer is one of the most common malignant tumors that seriously affects women's health and even threatens their lives. According to statistics, its incidence rate accounts for 7-10% of various malignant tumors in the whole body, and it is second only to uterine cancer in women. The incidence of breast cancer is often related to heredity. In addition, between the ages of 40 and 60, the incidence rate of women before and after menopause is higher. [0003] Breast cancer can be divided into sporadic and hereditary two categories. Among them, hereditary breast cancer accounts for about 5%-10% of the incidence of breast cancer. According to the "New England Journal of Medicine" (NEJM) report, the study found that in addition to the BRCA1 / 2 gene, there is a third breast cancer key gene PALB2. Wo...

Claims

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): C12Q1/68C12N15/11
Inventor 张利清官民晓刘蕊芳焦淑静王弢何素莉
Owner JIANGSU MICRODIAG BIOMEDICINE TECH CO LTD
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