Method and system for determining fetal beta thalassemia gene haplotype

A technology for thalassemia and haplotypes, which is applied in the fields of genomics, biochemical equipment and methods, and microbial determination/inspection. It can solve the problem of small number of detection sites, difficult sampling, and inability to detect maternal mutations. and other problems, to achieve the effect of simple sample, avoid bleeding, and strong practicability

Active Publication Date: 2018-07-24
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...

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  • Method and system for determining fetal beta thalassemia gene haplotype
  • Method and system for determining fetal beta thalassemia gene haplotype
  • Method and system for determining fetal beta thalassemia gene haplotype

Examples

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Effect test

Embodiment 1

[0172] 1. Preparation of microarrays captured by beta-thalassemia gene hybridization

[0173] Determine the region where the common beta thalassemia is located, and the preferred region is the region of beta thalassemia from 5,043,000 to 5,453,000 on chromosome 11.

[0174] To remove repeated fragments, the preferred method is to remove regions with more than 200 repeated fragments, that is, if a certain fragment can be compared to more than 200 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...

Embodiment 2

[0251] Noninvasive thalassemia detection was performed on one patient. Both the father and mother of this case were carriers of the CD41-42 mutation, and the fetus was homozygous for the CD41-CD42 mutation.

[0252] 1. Collection and processing of father and mother samples

[0253] 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.

[0254] 1.1 DNA extraction from plasma

[0255] 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:

[0256] 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.

[0257]...

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Abstract

The invention relates to a method for determining a fetal beta thalassemia gene haplotype. The method comprises the following steps: constructing a third-generation sequencing library based on a bloodsample, wherein the blood sample is taken from blood samples of fetal father and mother; performing third-generation sequencing on the third-generation sequencing library to obtain a third-generationsequencing result; determining father and mother beta thalassemia gene haplotypes according to the third-generation sequencing result; constructing a second-generation sequencing library based on a detection sample, wherein the detection sample is taken from peripheral blood samples of a pregnant woman; performing second-generation sequencing on the second-generation sequencing library to obtaina second-generation sequencing result; determining the fetal beta thalassemia gene haplotype according to the second-generation sequencing result and the father and mother beta thalassemia gene haplotypes.

Description

technical field [0001] The invention relates to a method and a system for determining the haplotype of the fetal beta thalassemia gene. Background technique [0002] At present, there are two types of detection methods for fetal beta 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, the methods for detecting fetal beta-thalassemia genes based on cell-free DNA in the peripheral blood of pregnant women mainly include the following: 1. Use microdroplet digital PCR to detect paternal or new mutations. 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, thes...

Claims

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Application Information

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IPC IPC(8): C12Q1/6883C12Q1/6869G06F19/22G06F19/18
CPCG16B20/00G16B30/00C12Q1/6869C12Q1/6883G16B20/20G16B25/20
Inventor 蒋馥蔓杜伯乐曾晓静张春生郭宇来王阳朱文涛李胜
Owner GUANGZHOU JINGKE DX CO LTD
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