30 Questions
What did Beadle and Tatum propose about metabolic processes?
Each step is controlled by a specific gene
Inborn errors of metabolism (IEMs) can be grouped by all of the following EXCEPT:
Geographical location of the population
What was the overall incidence of IEMs in the population according to the study in British Columbia?
Approximately 40 per 100,000 live births
What concept did Garrod introduce at the beginning of the twentieth century?
'One gene–one enzyme' concept
How did Beadle and Tatum characterize metabolic processes?
As consisting of steps controlled by a particular enzyme and gene
What percentage of all single gene disorders did IEMs make up in the population according to the study in British Columbia?
Approximately 15%
Which type of inheritance is most commonly followed by Inborn Errors of Metabolism (IEMs)?
Autosomal recessive
In autosomal IEMs, the defective protein is typically a diffusible ___.
Enzyme
Which type of inheritance can manifest in the heterozygous state due to haploinsufficiency or dominant-negative effects?
Autosomal dominant
What is the enzyme deficiency responsible for phenylketonuria?
Phenylalanine hydroxylase (PAH)
What is the consequence of the enzyme block in phenylketonuria?
Accumulation of phenylalanine
How did Bickel suggest treating phenylketonuria (PKU)?
Removal of phenylalanine from the diet
What is the consequence of a deficiency of tyrosine in children with PKU?
Development of blond hair and blue eyes
Which individual identified PKU as the first genetic disorder in humans caused by a specific enzyme deficiency?
Jervis
In which part of the brain may children with PKU lack pigment due to the enzyme block?
Substantia nigra
What is the typical eye color seen in children with PKU?
Blue eyes
Which of the following disorders is NOT mentioned as an example in the chapter?
Sickle cell anemia
What is the number of genes associated with a clinical phenotype due to mutations mentioned in the chapter?
Almost 3000
In which category of proteins do mutations often disrupt cell and organ function differently from the hemoglobinopathies?
Structural proteins
What type of disorder did the text mention as included because it best demonstrates a specific principle?
Less common disorders
What did the text outline in Chapter 11 provide a framework for understanding?
Pathogenesis of genetic disease
What is one of the well-known disorders examined in the chapter?
Familial hypercholesterolemia
Which type of proteins are present in virtually every cell and have fundamental roles in maintaining cell structure and function?
Housekeeping proteins
What is the consequence of the absence of phenylalanine hydroxylase (PAH) activity in the liver due to phenylketonuria?
Brain damage
Which proteins are produced in only one or a limited number of cell types and have unique functions contributing to the individuality of the cells?
Specialty proteins
What is the relationship between mutation in a tissue-specific protein and disease?
May produce secondary effects on other tissues
What can be inferred about the site of a protein’s expression and the site of disease?
There may be secondary effects on other tissues
What is the consequence of mutation in a tissue-specific protein?
Leaves the tissue expressing the mutant protein unaffected by the pathological process
What generalizations can be made about the clinical effects of mutations in housekeeping proteins?
Mutations in housekeeping proteins often have clinical effects in most or all tissues
How many protein-coding genes are typically expressed by most cell types in humans?
$10,000 to 15,000$
Test your knowledge of inborn errors of metabolism (IEMs) and mitochondrial disorders with this overview of single-gene biochemical or metabolic diseases. Explore the fascinating area of medicine and gain insight into the concept of 'chemical individuality' introduced by Garrod.
Make Your Own Quizzes and Flashcards
Convert your notes into interactive study material.
Get started for free
