Application of MLH1 gene, and kit for detecting gastrointestinal stromal tumor

A gastrointestinal stromal tumor and kit technology, applied in the field of medicine, can solve the problems of increasing the risk of abdominal implantation and local recurrence, and achieve the effect of optimal use, targeted use, and adjuvant therapy

Active Publication Date: 2014-06-18
北京圣谷智汇医学检验所有限公司
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  • Abstract
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  • Claims
  • Application Information

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Problems solved by technology

Some patients see a doctor because of ulcer perforation, which can increase the risk of abdominal implants and local recurrence

Method used

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  • Application of MLH1 gene, and kit for detecting gastrointestinal stromal tumor
  • Application of MLH1 gene, and kit for detecting gastrointestinal stromal tumor
  • Application of MLH1 gene, and kit for detecting gastrointestinal stromal tumor

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Embodiment approach

[0060] According to a typical embodiment of the present invention, a method for detecting gastrointestinal stromal tumors is provided. The method includes the following steps: extracting genomic DNA and sequencing the MLH1 gene; comparing the MLH1 gene sequence to determine whether there is a genetic mutation in the MLH1 gene. If there is a genetic mutation, it means that the patient may have gastrointestinal stromal tumors, which can be diagnosed by other diagnostic methods. Preferably, it is determined whether the MLH1 gene has a gene mutation from T to A from position 37672240 of chromosome 3, namely V384D.

[0061] Sequencing in the present invention can be performed by conventional sequencing methods in the field. Preferably, the MLH1 gene is sequenced by using Ion Torrent PGM sequencer or PCR combined with sanger method. These two sequencing methods have high sequencing efficiency and accurate sequencing.

[0062] Among them, sequencing using the Ion TorrentPGM sequencer can...

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Abstract

The present invention discloses an application of a MLH1 gene, and a kit for detecting a gastrointestinal stromal tumor, wherein the kit comprises MLH1 gene sequencing primers. According to the present invention, the inventor finds that: the gastrointestinal stromal tumor is caused by the common KIT and PDGFRA gene mutations, and the MLH1 (V384D) mutation is one of the causes of the gastrointestinal stromal tumor, such that the kit for detecting the gastrointestinal stromal tumor can be provided for rapidly and accurately detecting the MLH1 mutation site of the gastrointestinal stromal tumor and assistedly diagnosing the gastrointestinal stromal tumor so as to assistedly treat the gastrointestinal stromal tumor based on the finding; and after the MLH1 (V384D) mutation is detected by using the kit, the gene targeting drug can be adopted to specifically treat patients, such that the use of the targeting drug is specific.

Description

Technical field [0001] The invention relates to the field of medicine, in particular to an application of MLH1 gene and a kit for detecting gastrointestinal stromal tumors. Background technique [0002] Gastrointestinal stromal tumor (GIST) is the most common mesenchymal tumor of the digestive tract. It was often misdiagnosed as leiomyoma or leiomyosarcoma in the past. In 1983, Mazur and Clark first proposed the concept of GIST, and believed that its origin was related to Cajal cells in the gastrointestinal muscle layer. In recent years, the understanding of the disease has gradually deepened. It is generally believed that GIST is an interstitial tumor expressing the growth factor receptor KIT protein with tyrosine kinase activity. [0003] Gastrointestinal stromal tumors account for 1 to 3% of gastrointestinal malignant tumors, with an estimated annual incidence of about 10 to 20 per million. They are more common in middle-aged and elderly patients, but rare in patients under 40....

Claims

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): C12Q1/68
CPCC12Q1/6886C12Q2600/156
Inventor 叶桦楼峰唐川宁陈思毅
Owner 北京圣谷智汇医学检验所有限公司
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