Genetic Basis of Disease: Module 6 Lecture

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What is karyotyping defined as?

The study of chromosomes (correct)

The study of genes

The study of genetic disorders

The study of DNA

What is the conventional notation for a male karyotype?

46,XX

46,XY (correct)

46,Y

46,X

What is the purpose of FISH (Fluorescent In-Situ Hybridization)?

To identify subtle microdeletions and complex translocations (correct)

To analyze the sequence of DNA

To study the structure of genes

To analyze the number of chromosomes

What is the most common cause of mental retardation?

Trisomy-21 (A) Signup and view all the answers

What is the chromosomal abnormality associated with Klinefelter syndrome?

XXY (B) Signup and view all the answers

What is the risk associated with Trisomy-21?

All of the above (D) Signup and view all the answers

What is the characteristic of the skin in Ehlers-Danlos Syndromes?

Hyperelastic (A) Signup and view all the answers

What is the primary consequence of the LDL receptor defect in Familial Hypercholesterolemia?

Cholesterol buildup in the blood (B) Signup and view all the answers

What is the most common category of enzyme deficiencies?

Lysosomal storage diseases (C) Signup and view all the answers

What is the consequence of substrate buildup in enzyme deficiencies?

Product lack and potential harm (B) Signup and view all the answers

How many different types of Glycogen Storage Diseases are known?

13 (C) Signup and view all the answers

Which of the following lysosomal storage diseases is characterized by the accumulation of glucocerebroside?

Gaucher (A) Signup and view all the answers

What is the name of the enzyme that is deficient in Niemann-Pick disease?

Sphingomyelinase (B) Signup and view all the answers

Which of the following is a characteristic feature of Alcaptonuria?

Black urine (D) Signup and view all the answers

What is the term used to describe the inheritance pattern of traits such as height and intelligence?

Multifactorial (A) Signup and view all the answers

Which of the following lysosomal storage diseases is characterized by the accumulation of gangliosides?

Tay-Sachs (D) Signup and view all the answers

What is the approximate chance of first-degree relatives having a multifactorial disorder?

5% (A) Signup and view all the answers

What type of mutation involves a visible change in the chromosome?

Chromosome mutation (C) Signup and view all the answers

What is the result of a deletion or insertion mutation that is not a multiple of three?

Frameshift mutation (C) Signup and view all the answers

What type of inheritance pattern is characterized by reduced penetrance and variable expressivity?

Autosomal dominant (C) Signup and view all the answers

What is an example of a disease that follows an autosomal dominant inheritance pattern?

Huntington's Disease (A) Signup and view all the answers

What is the characteristic of autosomal recessive diseases?

They often have complete penetrance (D) Signup and view all the answers

What is an example of a disease that follows an autosomal recessive inheritance pattern?

Cystic Fibrosis (A) Signup and view all the answers

What is the cause of substrate accumulation in single gene disorders?

Enzyme defect (B) Signup and view all the answers

What is the defect in Marfan Syndrome?

Fibrillin-1 defect (D) Signup and view all the answers

Which of the following is an example of a sex-linked disorder?

Duchenne Muscular Dystrophy (D) Signup and view all the answers

What is the effect of a G6PD enzyme defect?

Increases drug susceptibility to Primaquine (A) Signup and view all the answers

What is the characteristic of heterozygous females in sex-linked disorders?

They are carriers with no phenotypic expression (D) Signup and view all the answers

What is the result of a receptor/transport protein defect in Familial Hypercholesterolemia?

Increased cholesterol levels (D) Signup and view all the answers