WorksheetsDNA and Chromosomes
Total questions: 15
Worksheet time: 11mins
It is the hereditary material found in nearly all living organisms.
Ribonucleic Acid (RNA)
Protein
Deoxyribonucleic Acid (DNA)
Carbohydrate
A gene is a specific segment of DNA that contains the instructions to build a particular functional product, which is typically a:
Protein
Master Blueprint for Life
Hereditary Material
Permanent change in the DNA (Nucleotide) sequence
A gene variant is a permanent change in the DNA sequence that make up gene. The term “variant” is increasingly preferred over “mutation” because:
Variance only occurred in non-coding region regions
Changes an amino acid
It leaves parts of dystrophin intact
changes in DNA are a natural part of genetic variation and do not always lead to disease or harm
Gene expression is the fundamental process by which the information encoded in a gene (DNA) is converted into a:
Nucleotide or a segment of DNA
Permanent change in the DNA (nucleotide) sequence
Functional product, typically a protein or a functional RNA molecule
genetic disorder
genetic variants can be classified by their scale. They can be small, affecting a single DNA building block, or large, affecting:
Entire chromosomes are large segments of DNA
An In-frame deletion
The Beta- Globin gene only
Only non-coding regions
which classification applies to a gene variant that is a harmless difference in the DNA sequence and has NO significant impact on the individual’s Health
variant of uncertain significance (VUS)
Benign variant
Nonsense variant
Pathogenic variant
what is the consequence of a substitution (point variant) that is classified as Silent?
Create an early stop codon, resulting in a shortened protein
Changes in amino acid
Nucleotides are added or removed
Changes the DNA, but codes for the same amino acid, having no effect
A frameshift variant, a type of insertion/deletion (Indel), occurs when the number of bases added or removed is:
A large segment of DNA
Not a multiple of three
A multiple of three
Only a single DNA building block or nucleotide
what is the specific phenotype outcome of the deletion mutation in the CFTR gene that causes cystic fibrosis?
A thick mucus buildup in lungs and digestive track, causing breathing and digestion problems
different mutations in the same gene cause distinct clinical phenotypes
Red blood cells become sickle-shape
Different Beta-globin mutations cause different anemia
The Sickle Cell anemia mutation is a point mutation (substitution) in the HBB gene that causes a change in one amino acid. Which specific change is listed?
Phenylalanine - Valine
No significant impact
Creates an early stop codon
Glutamic acid - Valine
Allelic disease (allelic heterogeneity) are described as occurring when:
A deletion mutation removes one amino acid
Variant can occur in both coding and non-coding regions
One gene can thus underline multiple disorders depending on the variant
Different genes causes the same disease
The CFTR gene illustrates allelic heterogeneity because while 🔼F508 mutation causes full cystic fibrosis, other variant in the same gene can cause:
Only male infertility (absence of vas deferens), chronic pancreatitis, or sinusitis, without the long disease of classic CF
Mucus buildup in lungs and digestive track
Red blood cells become sickle-shape
A large deletion that abolish dystrophin
which of the following is listed as a major type of structural variation
Insertion/Deletion (Indel)
Duplication (copying large segments) or Inversions (reversing a segment) of DNA
Substitution (point variant)
Frameshift
The DMD gene mutation causes the severe Duchenne Muscular Dystrophy (MD) through a frameshift or large deletion. What causes the milder Becker MD?
A Glu -> Val missence
A frameshift or large deletion that abolishes dystrophin
An in-frame deletion that leaves part of dystrophin intact
Chronic pancreatitis or sinusitis
genetic variants are the ultimate source of variation, driving the diversity of life. They can occur in which two general locations?
Only in a single DNA building block or nucleotide
In both coding regions (genes that make protein) and non-coding regions (which often regulate gene activity)
Only the entire chromosomes are large segments of DNA
Typically a protein or a functional RNA molecule
