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Genetic and molecular analysis of a variant form - University of Utah

Genetic and molecular analysis of a variant form - University of Utah 2025

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The dissertation by Lisa Nean Spirio presents a genetic and molecular analysis of a variant form of adenomatous polyposis coli (AAPC), which is characterized by fewer adenomatous polyps and later onset of colon cancer compared to classical APC. The study identifies several germline mutations in the APC gene associated with AAPC, mapping them to the 5' end of the gene. It highlights the importance of a newly identified CA-repeat marker (D5S346) located close to the APC gene for improved diagnostic testing and presymptomatic diagnosis in families at risk. The research also discusses loss of heterozygosity in tumors from AAPC patients, suggesting that while some residual function may remain in mutant alleles, additional somatic mutations are necessary for tumor progression.

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How do you test for genetic variants?

Genome sequencing This complex testing can help identify genetic variants that may relate to your health. This testing is usually limited to just looking at the protein-encoding parts of DNA called the exome.

What is a variant form of DNA?

Polymorphisms begin as mutations. They are variations in DNA that have become common in a population (prevalence of 1%) through sufficient propagation or other mechanisms. Most polymorphisms are stable and do not noticeably change phenotype. A common example is human blood groups (A, B, AB, and O).

What is an example of a genetic variant?

One of the variant forms of a gene at a particular locus, or location, on a chromosome. Different alleles produce variation in inherited characteristics such as hair color or blood type. In an individual, one form of the allele (the dominant one) may be expressed more than another form (the recessive one).

What is a form of genetic variation?

Genetic variation is a result of subtle differences in our DNA. Single nucleotide polymorphisms (SNPs, pronounced snips) are the most common type of genetic variation amongst people. Each single nucleotide polymorphism represents a difference in a single DNA base, A, C, G or T, in a persons DNA.

What is a variant form of genetic information at a specific location?

An allele is one of two or more versions of DNA sequence (a single base or a segment of bases) at a given genomic location. An individual inherits two alleles, one from each parent, for any given genomic location where such variation exists.

What are variant forms of a gene called?

An allele is a variant form of a gene. Some genes have a variety of different forms, which are located at the same position, or genetic locus, on a chromosome. Humans are called diploid organisms because they have two alleles at each genetic locus, with one allele inherited from each parent.

What is germline sequencing?

Germline genotyping and sequencing are used in disease gene discovery research and clinical genetic testing. Detection of germline variants typically requires sequencing of exonic regions through a commercial capture panel kit, either across all transcripts or a subset (small gene panel).

What are functional studies genetic variants?

Functional genetic variation studies aim to understand the molecular mechanisms and pathways that link genotype to phenotype. In human genetics this is an important step in translating genotype data for use in the clinic11.

Genetic and molecular analysis of a variant form - University of Utah 2025

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