Nutrigenomics

Question 1

A gene

Answer 1

DNA sequence that is needed to encode amino acid sequence of a protein. Composed of exons, introns and different control elements.

Question 2

Exon

Answer 2

protein coding sequence

Question 3

intron

Answer 3

intervening sequence

Question 4

Genetics

Answer 4

study of single genes and their effects

Question 5

Genomics

Answer 5

study of functions and interactions of all the genes in the genome, including interaction with environmental factors

Question 6

Allele

Answer 6

An alternative of a gene

Question 7

Codon

Answer 7

A 3-based sequence of DNA or RNA that specifies a single amino acid

Question 8

Loss of function mutation

Answer 8

A mutation that decreases the production or function of a protein (or does both)

Question 9

Gain of function mutation

Answer 9

A mutation that produces a protein that takes on a new or enhanced function

Question 10

Nonsense mutation

Answer 10

Substitution of a single DNA base that results in a stop codon, thus leading to the truncation of a protein

Question 11

Dominant character

Answer 11

Only 1 allele needed to cause the phenotype (heterozygous)

Question 12

Recessive character

Answer 12

Both alleles needed to cause the phenotype (homogeneous)

Question 13

Homozygous

Answer 13

Having 2 identical alleles at a specific autosomal (or X chromosome in a female) gene locus

Question 14

Heterozygous

Answer 14

Having 2 different alleles at a specific autosomal (or X chromosome in a female) gene locus

Question 15

Penetrance

Answer 15

The likelihood that a person carrying a particular mutant gene will have an altered phenotype

Question 16

Phenotype

Answer 16

The clinical presentation or expression of a specific gene or genes, environmental factors, or both

Question 17

Single-nucleotide polymorphism (SNP)

Answer 17

A common variant in the genome sequence; the human genome contains about 10 million SNPs. Does not change the sequence (function) of the protein, but has a high association with some type of disease

Question 18

Genome-wide association studies (GWAS)

Answer 18

The simultaneous investigation of many genotypes assayed on genome-scale SNP arrays for correlation with complex phenotypes in large quantitative or qualitative (case-control) population-based studies, resulting in a P value of association of each SNP. Larger GWAS are typically performed by combining summary statistics for each SNP test from multiple GWAS in a meta-anaylsis. Single GWAS are typically performed in two stages: Discovery GWAS stage: to identify associated SNPs. Replication stage: to confirm the association of top-ranking SNPs in independent samples.