28 Questions
Which term describes mutations on different loci but causing the same phenotype?
Modifier genes
What is the main enzyme deficiency associated with Phenylketonuria?
Phenylalanine hydroxylase (PAH)
Which enzyme is responsible for converting phenylalanine to tyrosine?
Phenylalanine hydroxylase (PAH)
What is the genetic inheritance pattern of Phenylketonuria?
Autosomal recessive
Which disorder is characterized by the inability to degrade phenylalanine?
Phenylalanine hydroxylase (PAH) deficiency
Which condition was the first recognized genetic cause of mental retardation?
Phenylketonuria
Which organelle is responsible for the degradation of biological macromolecules?
Lysosome
What is the main focus of the lectures in FM2004&PM2004 by Dr. Collette Hand?
Diseases due to mutations in different classes of proteins
What is a common consequence of genetic defects in lysosomal hydrolases?
Cell death
How many single gene disorders currently have unidentified genes according to Dr. Collette Hand's lecture?
Over 3,000
What is a characteristic feature of substrates storage in affected tissues or organs?
Neurodegeneration in the brain
Which of the following is NOT mentioned as an effect of mutation on function by Dr. Collette Hand?
Decrease in expression
In which population are compound heterozygotes common according to the text?
Asian descent
In which lecture would Dr. Collette Hand most likely discuss diseases related to receptor proteins?
Lecture 2 - Structural proteins
What is a key benefit of early treatment (< 4 weeks) for phenylketonuria?
Effectiveness in preventing seizures
Which textbook is specifically mentioned as part of the Genetics lectures in FM2004&PM2004 by Dr. Collette Hand?
Strachan & Read Elements of Genetics in Medicine
How does the accumulation of substrates impact cellular function according to the text?
Leads to cellular dysfunction
What is the number of genes known for various diseases as stated by Dr. Collette Hand in FM2004&PM2004?
~2,000 genes known
What is the defining characteristic of mucopolysaccharidoses?
Accumulation of mucopolysaccharides in lysosomes
What distinguishes the different types of mucopolysaccharidoses?
The length of the polysaccharide chains
What is a common symptom associated with Hurler syndrome?
Short stature
How are undegraded mucopolysaccharides typically detected in individuals with these disorders?
Detected in urine by screening tests
What has shown some success in treating individuals with Hurler syndrome?
Enzyme replacement therapy
What are the potential effects of an enzyme deficiency in a metabolic pathway according to the model described?
Accumulation of the substrate and derivatives, deficiency of the product and compounds made from it
What is the expected activity level in heterozygotes for recessive enzyme deficiencies?
~50% activity
In the context of enzyme deficiency, what is the difference between diffusible and macromolecular substrates?
Diffusible substrates are distributed throughout the body, while macromolecular substrates accumulate within cells
What can result from the loss of multiple enzyme activities in a metabolic pathway?
Phenotypic homology
Which proteins are mentioned as part of the next class after Enzymes according to the text provided?
Receptor proteins, Transport proteins, Structural proteins
Learn about Phenylketonuria (PKU), a genetic disorder that can lead to CNS damage if left untreated. Discover the importance of early screening and treatment with low-phenylalanine diet. Explore the genetic aspects including allelic and locus heterogeneity.
Make Your Own Quizzes and Flashcards
Convert your notes into interactive study material.
Get started for free
