MULTI-COPY REFERENCE ASSAY

摘要

A method, comprising amplifying a nucleic acid sequence of interest in a sample comprising genomic DNA of a subject; amplifying a reference nucleic acid sequence in the sample; quantifying the amplified sequence of interest relative to the amplified reference sequence; and determining a copy number of the sequence of interest from the relative quantified amplified sequence of interest. The reference sequence may have at least 80% sequence identity to at least one of SEQ ID NO:1-38, such as SEQ ID NO:1-13. Also disclosed are kits and compositions, each comprising a first probe which specifically hybridizes to at least a portion of at least one reference sequence. Also disclosed is a system configured to perform the above method.

主权项

1. A method, comprising:
amplifying a nucleic acid sequence of interest in a sample comprising genomic DNA of a subject; amplifying a reference sequence in the sample, wherein the reference sequence has at least 80% sequence identity to at least one portion of genomic DNA comprising from about 60 to about 150 base pairs,
wherein the at least one portion is present in chr1-121790-133586, chr1-329448-341534, chr1-648129-660266, chr1-222643865-228172047, chr1-243203764-243215874, chr10-38741930-38753964, chr11-114010-126106, chr16-90239446-90251554, chr19-183944-196032, chr2-114323560-114323652, chr2-243064480-243071940, chr20-62921559-62933673, chr3-197950387-197962431, chr4-119557144-120325498, chr4-165196360-165199636, chr5-180756063-180768074, chr6-170921836-170922549, chr7-39837560-63231088, chr7-128296352-128298474, chr8-143133-150475, chr9-49679-49771, chrY-26424506-27537936, or chr6-132951-145064;the at least one portion is present in at least a first minimum number of copies in the genome; andat least one copy of the at least one portion is present on each of at least a second minimum number of chromosomes; quantifying the amplified sequence of interest relative to the amplified reference sequence; and determining a copy number of the sequence of interest from the relative quantified amplified sequence of interest.