Whole exon library building process for gene detection of hypercholesteremia

A hypercholesterolemia and gene detection technology, applied in the field of molecular biology, can solve the problems of tediousness, multiple detection steps, and long operation time, and achieve the effect of simple library construction process, short time-consuming, fast and accurate detection

Pending Publication Date: 2022-04-12
广州源古纪科技有限公司
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Problems solved by technology

However, nowadays, the detection steps of familial hypercholesterolemia are many and cumbersome, and the operation time is long. If the whole exome library construction and sequencing technology can be applied to the detection of familial hypercholesterolemia, the detection process can be simplified, Improve diagnostic accuracy and reduce cost and labor intensity

Method used

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  • Whole exon library building process for gene detection of hypercholesteremia
  • Whole exon library building process for gene detection of hypercholesteremia
  • Whole exon library building process for gene detection of hypercholesteremia

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Embodiment

[0032] In the present invention, 8 samples are used for library construction, and the entire coding region including low-density lipoprotein receptor, apolipoprotein B, subtilisin protein convertase type 9 gene is used as the primer pool of the target region, and the high-throughput sequencing platform Perform DNA sequencing to detect point mutations (SNP) and small insertion-deletion (InDel). And the 8 samples have passed the first-generation test and the gene mutation type has been clarified.

[0033] The specific experiment is as follows:

[0034] A whole exon library construction process for gene detection of hypercholesterolemia, comprising the following steps:

[0035] Step S1, DNA extraction and crushing: Genomic DNA was extracted with QIAamp Genomic DNA Extraction Kit and standard DNA extraction methods, and then the DNA was fragmented into 150-250 DNA fragments by ultrasonic method using Covaris S220 ultrasonic DNA fragmentation instrument.

[0036] Step S2, purifyi...

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Abstract

The invention discloses a hypercholesteremia gene detection whole exon library building process which comprises the following steps: S1, DNA extraction and crushing: extracting genome DNA, and breaking the genome DNA into DNA fragments by adopting an ultrasonic method; s2, purifying the broken DNA sample: purifying the DNA sample by using a phosphate buffer and absolute ethyl alcohol; s3, repairing the tail end; repairing the sticky tail end into a flat tail end, and adding a basic group A; s4, carrying out PCR (Polymerase Chain Reaction) amplification; amplifying a DNA fragment with joints at two ends; s5, hybridizing and capturing; carrying out mixed reaction on the library, a hybridization reagent, a blocking reagent and a capture probe library; s6, quantifying the concentration of the exon library and diluting; and S7, library detection, loading and data analysis. The library building process can be applied to detection of familial hypercholesterolemia, the detection process is simplified, the diagnosis accuracy is improved, and the cost and the labor intensity are reduced.

Description

technical field [0001] The invention relates to the technical field of molecular biology, and more specifically, relates to a technique for building a whole exon library for gene detection of hypercholesterolemia. Background technique [0002] Hypercholesterolemia is familial hypercholesterolemia (FH), also known as familial hyperlipoproteinemia. Clinical features were hypercholesterolemia, characteristic xanthomas, and a family history of premature cardiovascular disease. FH is the most common hereditary hyperlipidemia in childhood, and it is also the most serious type of lipid metabolism disease, which can lead to various life-threatening cardiovascular disease complications and is an important risk factor for coronary artery disease . Familial hypercholesterolemia is a disease in which there is a high level of cholesterol in the blood due to a genetic mutation. People with hypercholesterolemia are at high risk for a heart condition called coronary artery disease, as we...

Claims

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): C12Q1/6883C12Q1/6806C12Q1/6869C40B50/06
Inventor 段志峰
Owner 广州源古纪科技有限公司
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