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Methods and systems for determining fetal spinal muscular atrophy gene haplotypes

A technique for muscular dystrophy and haplotype, applied in the fields of genomics, biochemical equipment and methods, biostatistics, etc., which can solve the problem of the small number of detection sites, the inability to detect maternal mutations, the need for sample size, and the difficulty of sampling, etc. problem, to achieve the effect of simple sample, avoid bleeding, and strong practicability

Active Publication Date: 2022-07-15
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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  • Methods and systems for determining fetal spinal muscular atrophy gene haplotypes
  • Methods and systems for determining fetal spinal muscular atrophy gene haplotypes
  • Methods and systems for determining fetal spinal muscular atrophy gene haplotypes

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0172] 1. Preparation of Microarrays Captured by Hybridization of Spinal Muscular Atrophy Gene

[0173] 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 spinal muscular atrophy region.

[0174] To remove duplicated fragments, the preferred method is to remove the regions with more than 200 repeated fragments, that is, if a certain fragment can be compared with more than 200 regions on the chromosome, then these fragments are removed.

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

[0176] Amplification and enrichment of long fragments can be performed at the same time using the PCR method, which can be used as a supplementary method to assist the chip to capture the target region.

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

[0178] a. Sample preparation: Obtain fetal paternal and maternal blood samples, and extract w...

Embodiment 2

[0253] One patient was tested for noninvasive SMA. In this case, both the father and mother were carriers of the c.56delT mutation, and the fetus was homozygous for the c.56delT mutation.

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

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

[0256] 1.1 Plasma DNA extraction

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

[0258] 1.1.1 Take 600μL of maternal peripheral blood plasma into a 2mL centrifuge tube, add 20μL of Proteinase K solution, 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 the haplotype of a fetal spinal muscular atrophy gene, comprising the following steps: constructing a third-generation sequencing library based on blood samples, the blood samples being taken from the blood samples of the father and mother of the fetus; analyzing the third-generation sequencing library Perform third-generation sequencing to obtain third-generation sequencing results; determine father and mother spinal muscular atrophy gene haplotypes according to the third-generation sequencing results; build a second-generation sequencing library based on detection samples, and the detection samples are taken from maternal peripheral blood samples; The second-generation sequencing library is subjected to second-generation sequencing to obtain a second-generation sequencing result; the fetal spinal muscular atrophy genotype haplotype is determined according to the second-generation sequencing result and the father's and mother's spinal muscular atrophy gene haplotype.

Description

technical field [0001] The present invention relates to a method and system for determining fetal spinal muscular atrophy gene haplotype. Background technique [0002] At present, the detection methods for fetal Spinal Muscular Atrophy (SMA) gene are divided into two types: invasive and non-invasive. Since invasive methods have a certain risk of miscarriage, non-invasive methods are more and more recognized and popularized. [0003] At present, there are several methods for detecting fetal spinal muscular atrophy gene based on cell-free DNA in maternal peripheral blood: 1. Detection of paternal or new mutations by droplet digital PCR. 2. Detect paternal or de novo mutations by means of target region capture high-throughput sequencing. 3. To construct haplotypes by sequencing the parents, grandparents and maternal grandparents or progenitors, and use maternal peripheral sequencing to evaluate the dose imbalance to determine the mutations inherited from the parents. However,...

Claims

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Application Information

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Patent Type & Authority Patents(China)
IPC IPC(8): C12Q1/6883C12Q1/6869G16B30/00G16B20/50G16B20/20G16B20/30G16B40/00
CPCG16B25/00C12Q1/6869C12Q1/6883C12Q2600/156C12Q2600/172G16B20/20G16B25/20G16B30/00C12Q2535/122
Inventor 蒋馥蔓曾晓静李胜杜伯乐张春生郭宇来王阳朱文涛
Owner GUANGZHOU JINGKE DX CO LTD
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