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A system for determining the haplotype of the fetal alpha thalassemia gene

A thalassemia and haplotype technology, which is applied in the determination/inspection of microorganisms, biochemical equipment and methods, etc., can solve the problems of the small number of detection sites, the difficulty of sampling, the inability to detect maternal mutations, and the required sample size. Achieve the effect of simple sample, avoid bleeding and strong practicability

Active Publication Date: 2020-11-20
GUANGZHOU JINGKE DX CO LTD
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  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

However, these methods have disadvantages such as the small number of detection sites, the inability to detect maternal mutations, or the need for a large sample size, which is difficult to sample.

Method used

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  • A system for determining the haplotype of the fetal alpha thalassemia gene
  • A system for determining the haplotype of the fetal alpha thalassemia gene
  • A system for determining the haplotype of the fetal alpha thalassemia gene

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0172] 1. Prepare the chip for alpha thalassemia gene hybridization capture

[0173] Determine the region where the common alpha thalassaemia is located, and the preferred region is the region of alpha thalassemia on chromosome 16 from 60001 to 434700.

[0174] To remove repeated fragments, the preferred method is to remove regions with more than 100 repeated fragments, that is, if a certain fragment can be compared to more than 100 regions on the chromosome, then remove these fragments.

[0175] To obtain a chip for thalassemia hybridization capture, the preferred method is a liquid phase capture chip.

[0176] At the same time, the PCR method can be used to amplify and enrich the long fragments, and the PCR method can be used as a supplementary method to assist the chip in capturing the target region.

[0177] 2. Construction of the third-generation library

[0178] a. Sample preparation: Obtain blood samples from the fetal father and mother, and extract whole-genome DNA f...

Embodiment 2

[0253] Non-invasive thalassemia detection was performed on 1 patient, the father and mother of this case were both -- sea Carrier of the mutation, the fetus is-- sea homozygous mutation.

[0254] 1. Collection and processing of father and mother samples

[0255] Using Streck blood collection tubes, 5 mL of peripheral blood was collected from the father and mother according to the standard peripheral blood collection operation. After the collection, the peripheral blood of the father and mother was separated in time according to the standard two-step centrifugation method.

[0256] 1.1 DNA extraction from plasma

[0257] The TIANamp Micro DNA Kit was used to extract the free DNA from the mother's peripheral blood plasma. The specific operation steps are as follows:

[0258] 1.1.1 Take 600 μL of pregnant women’s peripheral blood plasma into a 2 mL centrifuge tube, add 20 μL of Proteinase K solution, vortex fully, and centrifuge briefly.

[0259] 1.1.2 Add 600 μL of buffer s...

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Abstract

The present invention involves a method of determining the fetus alpha thalassemia gene, including the following steps: Building a three -generation sequencing library based on blood samples, the blood sample of the blood sample from the fetus father and mother;Three generations of sequencing, obtaining the results of the third -generation sequencing; determine the father and mother Alpha Mediterranean anemia gene monopo according to the results of the third -generation sequencing; based on the detection samples to build a second -generation sequencing library, the test sample is taken from the peripheral blood sample of the pregnant woman;The sequencing library is conducted in the second -generation sequencing and obtained the results of the second -generation sequencing; according to the results of the second -generation sequencing and the father and mother Alpha Mediterranean anemia gene monomer, determine the fetus Alpha Mediterranean anemia gene monomer type.

Description

technical field [0001] The invention relates to a method and system for determining the haplotype of the fetal alpha thalassemia gene. Background technique [0002] At present, there are two types of detection methods for fetal alpha thalassemia gene: invasive and non-invasive. Given that invasive methods have a certain risk of miscarriage, non-invasive methods are increasingly recognized and popularized. [0003] At present, there are mainly several methods for detecting fetal alpha thalassemia genes based on cell-free DNA in peripheral blood of pregnant women: 1. Detection of paternal or new mutations by microdroplet digital PCR. 2. Use target region capture high-throughput sequencing to detect paternal or new mutations. 3. Sequence the parents, grandparents and maternal grandparents or progenitors to construct the haplotype, and use maternal peripheral sequencing to evaluate the dose imbalance and determine the mutation inherited from the parents. However, these methods...

Claims

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Application Information

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Patent Type & Authority Patents(China)
IPC IPC(8): C12Q1/6858
CPCC12Q1/6858C12Q2535/122C12Q2537/165C12Q1/6883
Inventor 杜伯乐蒋馥蔓李胜郭宇来曾晓静张春生夏伟成朱文涛
Owner GUANGZHOU JINGKE DX CO LTD
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