Method and system for determining fetus alpha thalassemia gene haplotype

A thalassemia and haplotype technology, applied in biochemical equipment and methods, microbial measurement/testing, etc., can solve the problems of difficult sampling, unable to detect maternal mutations, and small number of detection sites. Achieve the effects of avoiding bleeding, strong practicability, and simple samples

Active Publication Date: 2018-05-18
GUANGZHOU JINGKE DX CO LTD
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Problems solved by technology

However, these methods have disadvantages such as the small number of detection sites, the inab...

Method used

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  • Method and system for determining fetus alpha thalassemia gene haplotype
  • Method and system for determining fetus alpha thalassemia gene haplotype
  • Method and system for determining fetus alpha thalassemia gene haplotype

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Experimental program
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Effect test

Embodiment 1

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

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

[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 fragm...

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 the peripheral blood plasma of pregnant women into a 2 mL centrifuge tube, add 20 μL of Proteinase K solution, shake and mix well, and centrifuge briefly.

[0259] 1.1.2 Add 600 μL ...

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Abstract

The invention relates to a method for determining a fetus alpha thalassemia gene haplotype. The method comprises the following steps: establishing a third-generation sequencing library according to ablood sample, wherein the blood sample is collected from blood samples of the father and mother of the fetus; performing the third-generation sequencing for the third-generation sequencing library, and obtaining a third-generation sequencing result; determining a father and mother alpha thalassemia gene haplotype according to the third-generation sequencing result; establishing a second-generationsequencing library according to a detection sample, wherein the detection sample is collected from a peripheral blood sample of a pregnant woman; performing the second-generation sequencing for the second-generation sequencing library, and obtaining a second-generation sequencing result; and determining the fetus alpha thalassemia gene haplotype according to the second-generation sequencing result as well as the father and mother alpha thalassemia gene haplotype.

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