Se33 mutations impacting genotype concordance
AssigneeLife Technologies Corporation
InventorsRobert GREEN, Dennis Wang, Julio Mulero, Robert Lagace
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Abstract
Disclosed are primer set compositions, methods and kits for human identification using the highly complex sequence locus, SE33 (ACTBP2) in single and multiplex PCR reactions. Additionally, disclosed are three newly discovered single nucleotide polymorphisms (SNPs) within the SE33 locus that can cause discordance seen as mobility shift or allelic dropout. Also disclosed are kits useful in human identification.
Claims31
A nucleic acid composition comprising a single nucleotide polymorphism (SNP), wherein said SNP is located at one of positions 316, 317 or 324 as illustrated in SEQ ID NO:3, and wherein said SNP is 3′ of the short tandem repeat (STR) region of the SE33 locus.
A method for amplifying a nucleic acid comprising:
- a. providing at least one forward primer capable of annealing to SE33 locus 5′ of a STR region,
- b. providing at least a first reverse primer capable of annealing to the SE33 locus 3′ of the STR region, wherein said reverse primer anneals to at least 4 contiguous nucleotides from nucleotide positions 282 to 332 and/or nucleotide positions 351 to 359 as illustrated in SEQ ID NO:3.
An amplification primer set for SE33 locus comprising:
- a. a first primer capable of annealing to a primer-binding site 5′ of SE33's STR region;
- and
- b. a second primer, a reverse primer, capable of annealing to a first primer-binding site 3′ of the SE33 STR region, wherein the first primer-binding site comprises one variant SNP, wherein the variant SNP is selected from one of nucleotide positions 316, 317 and 324 as illustrated in SEQ ID NO:3.
A kit for analyzing a plurality of STR loci in a nucleic acid sample, wherein the kit comprises at least a first SE33 STR locus primer set, wherein the SE33 primer set generates a first amplification product for said nucleic acid sample comprising a SNP at one of positions 316, 317 or 324 as illustrated in SEQ ID NO:3.
Dependencies are inferred from the claim text.