Method for detecting type II diabetes related gene KCNIP1 copy number variation, and application thereof

A copy number variation and detection method technology, which is applied in the determination/testing of microorganisms, biochemical equipment and methods, etc., can solve the problems of diabetes susceptibility difference and variation, and achieve the effect of accurate and reliable results, easy operation and low cost

Inactive Publication Date: 2017-09-01
WUHAN UNIV OF SCI & TECH
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Problems solved by technology

High-throughput sequencing discovery KCNIP1 There is a 1854 bp copy number variation in the gene sequence, and we speculate that this CNV may cause differences in susceptibility to diabetes among individuals
However, so far no KCNIP1 Gene CNV impact Literature reports on related clinical indications of type 2 diabetes mellitus

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  • Method for detecting type II diabetes related gene KCNIP1 copy number variation, and application thereof
  • Method for detecting type II diabetes related gene KCNIP1 copy number variation, and application thereof
  • Method for detecting type II diabetes related gene KCNIP1 copy number variation, and application thereof

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Embodiment Construction

[0031] The present invention will be further described in detail below, which is an explanation of the present invention rather than a limitation. Unless otherwise specified, the routine experimental conditions or the conditions suggested by the manufacturer's instruction were followed.

[0032] A Type 2 Diabetes Associated Gene KCNIP1 The detection method of copy number variation, using the blood genomic DNA of diabetic patients and normal people as templates, using the primer pair P1 (F1, R1) and P2 (F2, R2) as primers, respectively amplified by real-time fluorescent quantitative PCR KCNIP1 Gene CNV regions and reference genes RNase P , according to the quantitative analysis of the results KCNIP1 The difference in the distribution of gene CNV in diabetic patients and normal people identified the susceptibility genotype of this locus in diabetic patients.

[0033] Wherein said CNV marker refers to human KCNIP1 The copy number variation of the gene (GenBank: NC_000005.9) ...

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Abstract

The invention discloses a method for detecting type II diabetes related gene KCNIP1 copy number variation (CNV), and application thereof. The position of CNV on a chromosome is Chr5q35.1:170062275-170064128. According to the detection method, blood genome DNA of patients suffering from type II diabetes and normal individuals serve as templates, primer pairs P1(F1,R1) and P2(F2,R2) serve as primers, a KCNIP1 gene CNV area and a reference gene RNase P are amplified separately through real-time fluorescent quantitative PCR, the CNV is divided into an inserting type, a deletion type and a normal type according to Log2<2-delta delta Ct>, and the distribution difference of the KCNIP1 gene CNV in the patients suffering from type II diabetes and the normal individuals can be identified. The method can serve as a molecular diagnostic mark of the type II diabetes and provides important scientific basis for research and development of molecular targeted medicines.

Description

technical field [0001] The invention relates to the field of molecular biology detection of human diseases, in particular to a detection type 2 diabetes related gene KCNIP1 Methods and applications of copy number variation. Background technique [0002] Copy number variation (CNV) is a submicroscopic structural variation on genomic DNA, involving genomic sequences ranging in size from 1 kb to multiple Mb, including copy number gain and copy number decrease (Copy number loss). There are extensive copy number variations in the human genome, and most CNV regions belong to the category of DNA sequence polymorphisms, which are the molecular basis of human basic phenotypic diversity, and some CNVs do not cause any phenotypic changes. However, there are still some CNVs that can disrupt the structure of functional genes, affect gene expression, and eventually cause the occurrence of complex human diseases. Therefore, the identification of CNV loci that are closely related to di...

Claims

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): C12Q1/68
CPCC12Q1/6851C12Q2531/113C12Q2561/113C12Q2563/107
Inventor 徐瑶石伟林宋如晦代洋许娜廖兴华张同存
Owner WUHAN UNIV OF SCI & TECH
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