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Technology
A modified polymerase chain reaction (PCR) technique in which a specific primer can amplify its corresponding allele only; this allows for the determination of the presence or absence of a single, specific allele during genotype testing.
Indicators
Human ANPEP wild-type allele is located within 15q25-q26 and is approximately 30 kb in length. This allele, which encodes aminopeptidase N protein, is involved in the modulation of peptide hydrolysis and human infection by cytomegalovirus and coronavirus.
Glossary Term
The relative rate of occurrence of a specific variant allele compared to the total number of alleles at that locus in the sample. This measurement may be reported as a ratio or percentage.
Glossary Term
Mutually exclusive alternative forms of the same gene occupying the same locus on homologous chromosomes, differing in nucleotide sequence and governing the same biochemical and developmental process.
Article
Research record from HLA, 2026-08-01. PMID 42647814.
Article
Research record from HLA, 2026-07-01. PMID 42478549.
Article
Research record from HLA, 2026-10-01. PMID 42813707.
Article
Research record from HLA, 2026-04-01. PMID 42002278.
Technology
Analysis that looks for differences in the lengths of microsatellite repeats between alleles. Polymorphic microsatellites are present in the genome every few thousand base pairs and can function as molecular markers.
Technology
A procedure used to demonstrate nucleotide sequence variations that occur in the same region of DNA between individuals within a species, or between alleles in an individual to detect mutations in various genes, such as oncogenes, tumor suppressor genes, or genes responsible for genetic diseases. The method detects different conformations adopted by partially denatured DNA fragments resulting from their specific nucleotide sequences under denaturing conditions. Denatured single-stranded DNA fragments are allowed to partially renature without formation of double-stranded DNA. The particular conformations adopted by each of the renatured fragments depend on each of their specific nucleotide sequences. The fragments are run on polyacrylamide gels to detect subtle changes in migration due to their particular secondary structures. Resulting fragment band in the gel will misalign if any point mutations are present to alter the conformation.
Glossary Term
A genetic variation where gain, loss, or exchange of DNA results in monoallelic loss of function mutations in a diploid cell. In the context of tumor suppressor genes, where a single copy is sufficient for functionality, loss of function for the second allele is associated with tumorigenesis.
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