SYSTEMS AND METHODS FOR DETECTION OF GENETIC STRUCTURAL VARIATION USING INTEGRATED ELECTROPHORETIC DNA PURIFICATION

    公开(公告)号:US20210088473A1

    公开(公告)日:2021-03-25

    申请号:US16603573

    申请日:2018-04-06

    摘要: An electrophoresis cassette may include sample well(s), gel column(s) containing a separation gel, and elution modules arranged adjacent the gel column(s). A sample may be provided to the electrophoresis cassette and high-molecular weight DNA may be isolated from the sample. Single-copy DNA sequences may be cleaved on both sides of a repeat region of the DNA sequences to produce a cleaved sample, which then may be fractionated using gel electrophoresis. DNA fractions may be isolated from consecutive sections of the separation gel and subjected to PCR assays to detect single-copy sequences within the DNA fraction, said single-copy sequence containing repeat expansion sequences. The subjected DNA fractions may be electroeluted into the plurality of elution modules. A size of DNA fractions having the repeat expansion sequences may be determined. It is also determined if that size is above a normal repeat size range.

    PREPARATIVE ELECTROPHORETIC METHOD FOR TARGETED PURIFICATION OF GENOMIC DNA FRAGMENTS

    公开(公告)号:US20230227808A1

    公开(公告)日:2023-07-20

    申请号:US18149603

    申请日:2023-01-03

    IPC分类号: C12N15/10 G01N27/447

    CPC分类号: C12N15/101 G01N27/44747

    摘要: A sample containing particles having high-molecular-weight (HMW) DNA is entrapped in a gel matrix, and the gel matrix is exposed to a lysis reagent configured to release the HMW DNA from the particles. The HMW DNA may be purified by subjecting the gel matrix to an electrophoretic field that removes the HMW DNA from the particles, lysis reagents, and/or other sample constituents, from the gel matrix such that the HMW DNA remains. The gel matrix may be subjected with DNA cleavase re-agents configured to cleave at specific DNA sequences within the HMW DNA to liberate defined segments of the DNA as fragments of reduced size. The gel matrix may also be subjected to an electrophoretic field, which moves and separates the DNA fragments from uncleaved DNA of the HMW DNA, which remains substantially immobile. The electrophoretically separated DNA fragments may be isolated from the gel matrix.