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A detection kit for kcnh2 mutation gene and long qt syndrome

A detection kit and technology for QT syndrome, applied in the field of human genetics and internal medicine and cardiovascular, can solve the problem of limited mutation sites of KCNH2 gene, so as to promote the research and development of innovative drugs and reduce the birth of children

Active Publication Date: 2022-03-08
百世诺(北京)医疗科技有限公司
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  • Application Information

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Problems solved by technology

[0004] KCNH2 gene mutation is closely related to the pathogenesis of LQTS type 2, but the mutation sites of KCNH2 gene reported so far are still very limited, and finding any mutation site of KCNH2 gene is an important technical contribution to the field, and it is helpful for prevention and treatment. Diagnosis of LQTS type 2 brings new hope to more patients

Method used

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  • A detection kit for kcnh2 mutation gene and long qt syndrome
  • A detection kit for kcnh2 mutation gene and long qt syndrome
  • A detection kit for kcnh2 mutation gene and long qt syndrome

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Embodiment 2

[0047]Embodiment 2-a kind of long QT syndrome detection kit

[0048] This embodiment provides a kit for detecting heterozygous missense variation of the human KCNH2 mutant gene c.1015A>T, and the composition of the kit is shown in Table 4 below:

[0049] Table 4 Kit Composition

[0050]

[0051] The specific steps of using this kit to screen for long QT syndrome are as follows: extract the DNA of the test subject according to the steps in Example 1, and then use the designed primer combination (SEQ ID NO:5 and SEQ ID NO:6) to carry out KCNH2 gene Amplify to obtain PCR products, and finally sequence the PCR products. The reference sequence obtained from the NCBI (https: / / www.ncbi.nlm.nih.gov / ) database is compared with the sequencing results to determine whether the subject’s KCNH2 gene carries the c.1015A>T heterozygous missense mutation, and to assist clinical Determine whether the test subject suffers from long QT syndrome type 2.

Embodiment 3

[0052] Example 3 - Mutation verification for normal people outside the family line

[0053] Referring to the method of Example 1, 463 cases of unrelated normal people of the same race (ie, normal people outside the family) were tested for the c.1015A>T mutation site of the KCNH2 gene, and the mutation was not detected.

[0054] Based on the above results, and based on the c.1015A>T heterozygous missense mutation of the KCNH2 gene, the protein encoded by the KCNH2 gene will undergo p.Asn339Tyr changes, and the KCNH2 gene is a known pathogenic gene of long QT syndrome. It is proved that the c.1015A>T heterozygous missense variant of KCNH2 gene is the pathogenic variant of long QT syndrome.

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Abstract

The present invention relates to the technical fields of human genetics and internal medicine cardiovascular technology, and specifically relates to a KCNH2 mutant gene, at the genome position chr7: 150654492, base A is mutated into base T; the reference genome version is GRCh37. The present invention also relates to a long QT syndrome detection kit, comprising a forward primer and a reverse primer designed according to the KCNH2 mutant gene, the sequence of the forward primer is SEQ ID NO: 5, and the sequence of the reverse primer is SEQ ID NO :6. The human KCNH2 mutant gene provided by the present invention can distinguish long QT syndrome patients from normal people, and can be used as a biomarker for clinical auxiliary diagnosis of long QT syndrome; detection of carriers of the mutation can provide eugenic guidance for subjects and genetic counseling to reduce the number of births; provide possible drug targets for humans to overcome long QT syndrome, and promote the development of innovative drugs.

Description

technical field [0001] The invention relates to the technical fields of human genetics and internal medicine cardiovascular technology, in particular to a detection kit for KCNH2 mutation gene and long QT syndrome. Background technique [0002] Long QT syndrome (long QT syndrome, LQTS) is an autosomal dominant genetic heart disease, clinically characterized by recurrent syncope, convulsions, and even sudden death, with QTc prolongation, T wave changes, and torsades de pointes on the electrocardiogram Ventricular tachycardia (torsade de pointes, TdP). It is more common in children and young adults before age 30, and is often triggered by exercise and emotional stress (eg, ringing, thunder, or sudden awakening). Due to the young age of onset, it has a huge impact on the family and society. [0003] The most common pathogenic genes known to LQTS are KCNQ1 (mutation causing LQTS type 1), KCNH2 (mutation causing LQTS type 2) and SCN5A (mutation causing LQTS type 3), which accou...

Claims

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Application Information

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Patent Type & Authority Patents(China)
IPC IPC(8): C12N15/12C12N15/11C12Q1/6883
CPCC07K14/47C12Q1/6883C12Q2600/156
Inventor 刘哲
Owner 百世诺(北京)医疗科技有限公司
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