Molecular Biology of Genetic Variants

Question 1

Allele

Answer 1

Alternative form of a genetic variant; originally also of a phenotypic trait.

Question 2

Epistatic

Answer 2

Describing the impact of a gene, often at a distance, on the effect of another gene.

Question 3

Genotype

Answer 3

Set of alleles present in a particular individual; for biallelic variants, there are three possible genotypes.

Question 4

Micro Rna, miRNA

Answer 4

Short RNA segment of regulatory significance that is usually the transcription product in a noncoding region.

Question 5

Monoallelic expression

Answer 5

It indicates that only one of alternative alleles is expressed by a cell, contrary to the usual expectation of joint expression.

Question 6

Nutritope

Answer 6

Nutrition environment to which local populations are exposed to and which over time can shape their genome.

Question 7

Phenotype

Answer 7

Set of observable traits that is commonly observed together, such as obesity, elevated blood pressure, and insulin resistance.

Question 8

Trait

Answer 8

Observable characteristics, such as height, blood pressure, or a metabolite concentration

Question 9

Transcription initiation site

Answer 9

Position where the transcription of DNA into mRNA starts.

Question 10

Mitochondrial DNA

Answer 10

Contains its own DNA. It is a loop of a double-stranded helix with 16,569 base pairs, encoding only 37 genes.

Question 11

Copy number variants

Answer 11

Defined as multiplications of segments that encompass more than one 1000 base pairs, not necessarily a full gene sequence.