Method for detecting copy number variation of human CYP2D6 gene

A gene copy number and copy number variation technology, applied in the field of molecular biology, can solve the problems of cumbersome procedures, low accuracy, time-consuming and laborious, etc., and achieve the effect of convenient and fast operation, simplified operation and guaranteed accuracy
CN113186266AActive Publication Date: 2021-07-30上海康黎诊断技术有限公司
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Patent Information

Authority / Receiving Office
CN · China
Patent Type
Applications(China)
Current Assignee / Owner
上海康黎诊断技术有限公司
Publication Date
2021-07-30

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Abstract

The invention provides a method for detecting copy number variation of a human CYP2D6 gene, the method comprises the following steps of: selecting two DNA sequences which have certain copy number and do not have copy number variation in a known genome of a sample to be detected as reference genes, calculating the difference Ct0 of Ct values of the two reference genes, and judging whether the degradation degree of the sample reaches the inaccurate detection degree or not; if the Ct0 reaches a threshold value which cannot ensure the accuracy of the detection result, prompting to re-sample for DNA extraction; and if the Ct0 is within a threshold range for ensuring the accuracy of the detection result, calculating the difference value between the Ct value of the CYP2D6 gene and the Ct value of one reference gene to obtain Ct1, and further judging the CYP2D6 copy number variation condition of the sample to be detected. According to the invention, the quality problem of the sample is eliminated, the accuracy of the CNV detection result is ensured, the operation is convenient and fast, the detection time is shortened, and the high cost caused by sequencing is saved.
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Description

technical field

[0001] The present invention relates to the field of molecular biology, and more specifically relates to a method for detecting variation in the copy number of human CYP2D6 gene. Background technique

[0002] CYP2D6 is responsible for the metabolism of 20%-30% of human drugs. Many studies have shown that there is a very high correlation between CYP2D6 enzyme activity and the polymorphism of the gene, and the activity is rarely changed by induction. CYP2D6 copy number variation (CNV) is closely related to its activity. For example, the homozygous mutation of *5 is 0 copy, and the human CYP2D6 enzyme activity of this genotype is extremely low, which easily leads to the accumulation of drugs metabolized by CYP2D6, and is prone to adverse reactions. However, people who carry 3 copies of CYP2D6 (3CNV) and above have very high enzyme activity and a high elimination rate of drugs metabolized by it. It is often difficult for conventional doses of drugs to reach eff...

Claims

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