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Method and system for detecting alpha-globin gene copy number

A gene copy number and globin technology, applied in the field of biomedicine, can solve problems such as hemoglobin instability and hemoglobin component ratio imbalance

Active Publication Date: 2013-03-06
BGI GENOMICS CO LTD
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  • Claims
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Problems solved by technology

The molecular mechanism leading to thalassemia is: a defect in the globin gene reduces or lacks the synthesis of one or several peptide chains encoded, resulting in an imbalance in the composition of hemoglobin, which in turn leads to hemoglobin instability

Method used

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  • Method and system for detecting alpha-globin gene copy number
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  • Method and system for detecting alpha-globin gene copy number

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Embodiment 1

[0147] Using the technical scheme and detection process of the present invention to detect 950 samples with known results (including normal and abnormal copy numbers) after Gap-PCR detection, 922 samples in the detection results are consistent with the known results, and the result coincidence rate 97.1%; for the 28 samples that did not match, the quantitative PCR method was used to quantify the HBA1 and HBA2 genes, and at the same time, the specific primer PCR was used to detect the two common multi-copy types of α-globin genes in China, Anti-3.7 and Anti- 4.2. The results show that the verification results of the two methods are consistent with the detection results of the present invention, indicating that the technology of the present invention can accurately detect the copy number of HBA1 and HBA2 genes in the sample to be tested, and has the advantages of high throughput, low cost and accuracy. The specific implementation is as follows:

[0148] 1. sample extraction

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Abstract

The invention provides a method and a system for detecting alpha-globin gene copy number in a nucleic acid sample. The method comprises the following steps of: amplifying the nucleic sample to obtain an amplification product; establishing a sequencing library for the amplification product; sequencing the sequencing library to obtain a sequencing result, wherein the sequencing result is composed of multiple sequencing data; determining the sequencing data from alpha-globin gene in the sequencing result; and determining the copy number of the alpha-globin gene in the nucleic acid sample based on the number of the sequencing data of the alpha-globin gene. The method provided by the invention can effectively determine the copy number of the alpha-globin gene in the nucleic acid sample.

Description

technical field [0001] The present invention relates to the field of biomedicine, in particular, to a method, a primer composition, a label composition and a system for the copy number of α-globin gene. Background technique [0002] Thalassemia (hereinafter referred to as thalassemia) is a common hemolytic single-gene genetic disease, which mainly occurs in the Middle East, Central Asia, Africa, Southeast Asia and southern China. The molecular mechanism leading to thalassemia is: a defect in the globin gene reduces or lacks the synthesis of one or more of the encoded peptide chains, resulting in an imbalance in the composition of hemoglobin, which in turn leads to hemoglobin instability. Thalassemia is mainly divided into α-thalassemia and β-thalassemia according to the type of defective globin gene. Most of the α-thalassemia is caused by the deletion of the α-globin gene, and some are caused by mutations, of which the deletion type accounts for more than 90%. Caused by la...

Claims

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Application Information

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IPC IPC(8): C12Q1/68C12N15/11C12M1/34
CPCC12Q2600/156C12Q1/6883C12Q1/6869C12Q2600/158C12M1/34
Inventor 陈仕平李剑张现东甄贺富陈彩粉张涛王俊
Owner BGI GENOMICS CO LTD
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