29 Questions
What is karyotyping defined as?
The study of chromosomes
What is the conventional notation for a male karyotype?
46,XY
What is the purpose of FISH (Fluorescent In-Situ Hybridization)?
To identify subtle microdeletions and complex translocations
What is the most common cause of mental retardation?
Trisomy-21
What is the chromosomal abnormality associated with Klinefelter syndrome?
XXY
What is the risk associated with Trisomy-21?
All of the above
What is the characteristic of the skin in Ehlers-Danlos Syndromes?
Hyperelastic
What is the primary consequence of the LDL receptor defect in Familial Hypercholesterolemia?
Cholesterol buildup in the blood
What is the most common category of enzyme deficiencies?
Lysosomal storage diseases
What is the consequence of substrate buildup in enzyme deficiencies?
Product lack and potential harm
How many different types of Glycogen Storage Diseases are known?
13
Which of the following lysosomal storage diseases is characterized by the accumulation of glucocerebroside?
Gaucher
What is the name of the enzyme that is deficient in Niemann-Pick disease?
Sphingomyelinase
Which of the following is a characteristic feature of Alcaptonuria?
Black urine
What is the term used to describe the inheritance pattern of traits such as height and intelligence?
Multifactorial
Which of the following lysosomal storage diseases is characterized by the accumulation of gangliosides?
Tay-Sachs
What is the approximate chance of first-degree relatives having a multifactorial disorder?
5%
What type of mutation involves a visible change in the chromosome?
Chromosome mutation
What is the result of a deletion or insertion mutation that is not a multiple of three?
Frameshift mutation
What type of inheritance pattern is characterized by reduced penetrance and variable expressivity?
Autosomal dominant
What is an example of a disease that follows an autosomal dominant inheritance pattern?
Huntington's Disease
What is the characteristic of autosomal recessive diseases?
They often have complete penetrance
What is an example of a disease that follows an autosomal recessive inheritance pattern?
Cystic Fibrosis
What is the cause of substrate accumulation in single gene disorders?
Enzyme defect
What is the defect in Marfan Syndrome?
Fibrillin-1 defect
Which of the following is an example of a sex-linked disorder?
Duchenne Muscular Dystrophy
What is the effect of a G6PD enzyme defect?
Increases drug susceptibility to Primaquine
What is the characteristic of heterozygous females in sex-linked disorders?
They are carriers with no phenotypic expression
What is the result of a receptor/transport protein defect in Familial Hypercholesterolemia?
Increased cholesterol levels
This quiz covers the genetic basis of disease, including mutations, gene mutations, and chromosome mutations. It also explores how these mutations can lead to diseases. Suitable for 2nd semester students of S.Y. 2023-2024.
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