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Fetus spinal muscular atrophy gene haplotype determining method and system

A technique for muscular dystrophy and haplotypes, which is applied in the fields of genomics, biochemical equipment and methods, and microbial determination/inspection, and can solve the difficulty of sampling and the inability to detect maternal mutations, which require sample size and the number of detection sites Less problems, to achieve the effect of avoiding bleeding, strong practicability, and simple samples

Active Publication Date: 2018-05-25
GUANGZHOU JINGKE DX CO LTD
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  • Summary
  • Abstract
  • 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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  • Fetus spinal muscular atrophy gene haplotype determining method and system
  • Fetus spinal muscular atrophy gene haplotype determining method and system
  • Fetus spinal muscular atrophy gene haplotype determining method and system

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0172] 1. Preparation of hybrid capture chip for spinal muscular atrophy gene

[0173] To determine the region where the common spinal muscular atrophy is located, the preferred region on chromosome 5 70,922,133 to 70,955,823 is the region of spinal muscular atrophy.

[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 SMA hybrid 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] Noninvasive SMA detection was performed on one patient. Both the father and mother of this case were carriers of the c.56delT mutation, and the fetus was homozygous for the c.56delT 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 A...

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Abstract

The invention relates to a fetus spinal muscular atrophy gene haplotype determining method and system. The method comprises the following steps of, on the basis of blood samples, structuring a three-generation sequencing library, wherein the blood samples are from parents of a fetus; performing third-generation sequencing on the three-generation sequencing library to acquire third-generation sequencing results; according to the third-generation sequencing results, determining spinal muscular atrophy gene haplotypes of the parents; based on detected samples, structuring a second-generation sequencing library, wherein the detected samples are peripheral blood samples of a pregnant mother; performing second-generation sequencing on the second-generation sequencing library to obtain second-generation sequencing results; according to the second-generation sequencing results and the spinal muscular atrophy gene haplotypes of the parents, determining the spinal muscular atrophy gene haplotypeof the fetus.

Description

technical field [0001] The invention relates to a method and system for determining the haplotype of fetal spinal muscular atrophy. Background technique [0002] At present, there are two types of detection methods for fetal spinal muscular atrophy (SMA) genes: 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 spinal muscular atrophy genes based on free DNA in the peripheral blood of pregnant women mainly include the following: 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. ...

Claims

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Application Information

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IPC IPC(8): C12Q1/6883C12Q1/6869G06F19/20
CPCG16B25/00C12Q1/6869C12Q1/6883C12Q2600/156C12Q2600/172G16B20/20G16B25/20G16B30/00C12Q2535/122
Inventor 蒋馥蔓曾晓静杜伯乐张春生郭宇来王阳朱文涛李胜
Owner GUANGZHOU JINGKE DX CO LTD
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