30 Questions
What is the term used to describe the situation where an individual inherits two copies of a chromosome from the same parent?
Uniparental disomy
Which of the following is a characteristic of Beckwith-Wiedemann syndrome?
Macroglossia, microcephaly, and umbilical hernia
What is the main reason for the maternal inheritance pattern seen in mitochondrial disorders?
Paternal mitochondria are destroyed after fertilization
Which of the following is a characteristic of multifactorial and polygenic inheritance?
Involves an imbalance between genetic and environmental factors
What is the approximate incidence of Beckwith-Wiedemann syndrome?
1 in 13,700 live births
What is the main characteristic of Kearns-Sayre syndrome?
Progressive ophthalmoplegia with onset at 18-20 years old
What type of mutation results in premature termination with loss of function or expression?
Frameshift
In the context of protein production, what does a nonsense mutation lead to?
Premature stop codon
What is the effect of a silent mutation on the protein product?
No change in amino acid
Which type of mutation results in an altered amino acid being produced?
Missense
What alteration does a frameshift mutation cause in the protein product?
Stop codon production
Which mutation leads to the production of a stop codon?
Nonsense
What is the main purpose of replacement therapies discussed in the text?
To replace missing metabolic, enzyme, or organ functions
Which of the following is an example of enzyme replacement therapy discussed in the text?
Treatment for cystic fibrosis
What is the connection between Dolly the Sheep and Dolly Parton mentioned in the additional information?
The scientists named Dolly the Sheep after Dolly Parton because the DNA used came from mammary gland cells
What is the purpose of the pedigree shown in the additional information?
To analyze the pattern of inheritance of genetic diseases
What type of chromosomal abnormalities are discussed in the text?
Both numerical and structural abnormalities
Which of the following is NOT mentioned as a type of replacement therapy in the text?
Dietary manipulation
Which of the following is a treatment for triplet repeat expansion disorders?
Steroids to slow muscle strength decline
What is the primary effect of triplet repeat expansion disorders?
Neurological problems
Which of the following is NOT a triplet repeat expansion disorder mentioned in the text?
Cystic fibrosis
What is the characteristic of triplet repeat expansion disorders mentioned in the text?
They exhibit genetic anticipation
What is the function of the enzyme glucose-6-phosphate dehydrogenase (G6PD)?
Keeps glutathione reduced to prevent RBC oxidation
What is the prevalence of G6PD deficiency among Filipinos?
1 out of 52
What is the central tenet of molecular genetics?
The information encoded in DNA is transcribed into mRNA for protein production.
What is the correct order of the processes involved in protein production?
Replication, Transcription, Translocation
What process must the mRNA undergo before it is transported to the cytoplasm?
Processing to become functional
What is the purpose of the amino acid wheel?
To illustrate the triplet codons for each amino acid
What are the stop codons in the genetic code?
UAA, UGA, UAG
What can cause genetic variations in the process of producing proteins?
Both substitution and deletion of nucleotides
Test your knowledge on the essential processes in molecular genetics, including DNA replication, transcription, and translocation of mRNA. Learn about how genetic information is utilized to produce functional proteins in the cell.
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