Method and system for determining haplotype of fetal duchenne muscular dystrophy
A technology for muscular dystrophy and haplotypes, applied in the fields of genomics, biochemical equipment and methods, and microbial determination/inspection, which can solve the problem of sample size, difficulty in sampling, and number of detection sites that cannot detect maternal mutations Less problems, to achieve the effect of avoiding bleeding, strong practicability, and simple samples
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Embodiment 1
[0172] 1. Preparation of Duchenne Muscular Dystrophy Gene Hybridization Capture Chip
[0173] Determine the region where the common Duchenne muscular dystrophy is located, the preferred region is 30897180 to 33561648 on chromosome X is the region of Duchenne muscular dystrophy.
[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 DMD 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...
Embodiment 2
[0253] Non-invasive DMD detection was performed on 1 patient. In this case, both the father and mother were carriers of the c.583C>T mutation, and the fetus was homozygous for the c.583C>T 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 ...
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