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SYSTEMS AND METHODS FOR DETECTION OF GENETIC STRUCTURAL VARIATION USING INTEGRATED ELECTROPHORETIC DNA PURIFICATION
专利权人:
SAGE SCIENCE, INC.
发明人:
BOLES, T. Christian
申请号:
WO2018US26603
公开号:
WO2018187779(A1)
申请日:
2018.04.06
申请国别(地区):
世界知识产权组织国际局
年份:
2018
代理人:
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.
来源网站:
中国工程科技知识中心
来源网址:
http://www.ckcest.cn/home/

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