Genetic Disorders: Types, Causes, and Treatment

Question 1

In the ethical considerations of genetic disorder diagnosis and treatment, which principle holds the highest priority?

Accepted Answer

Respecting patient autonomy

Answer

Ensuring cost-effectiveness

Answer

Adhering to technological limitations

Answer

Accepting genetic determinism

Question 2

Which of these genetic disorders is caused by an expansion of trinucleotide repeats?

Accepted Answer

Huntington's disease

Answer

Cystic fibrosis

Answer

Sickle cell anemia

Answer

Down syndrome

Question 3

Which of the following is NOT a recognized type of genetic disorder?

Accepted Answer

Environmental disorder

Answer

Single-gene disorder

Answer

Chromosomal disorder

Answer

Multifactorial disorder

Question 4

Which of the following is an example of a single-gene disorder that affects hemoglobin production?

Accepted Answer

Sickle cell anemia

Answer

Down syndrome

Answer

Cystic fibrosis

Answer

Turner syndrome

Question 5

What is the most common chromosomal disorder in humans?

Accepted Answer

Down syndrome

Answer

Turner syndrome

Answer

Klinefelter syndrome

Answer

Cri du chat syndrome

Question 6

Which of the following is a characteristic of multifactorial disorders?

Accepted Answer

Involve multiple genes and environmental factors

Answer

Caused by a single mutation

Answer

Always inherited in an autosomal dominant manner

Answer

Usually have a clear Mendelian inheritance pattern

Question 7

What is the molecular basis of the genetic disorder sickle cell anemia?

Accepted Answer

A point mutation in the beta-globin gene

Answer

A deletion in the alpha-globin gene

Answer

An inversion in the gamma-globin gene

Answer

A translocation involving the beta-globin gene

Question 8

Which of the following is NOT a recognized type of genetic disorder?

Accepted Answer

Infectious disorder

Answer

Single-gene disorder

Answer

Chromosomal disorder

Answer

Multifactorial disorder

Question 9

Point mutations are the most frequent cause of which type of genetic disorder?

Accepted Answer

Single-gene disorder

Answer

Chromosomal disorder

Answer

Multifactorial disorder

Answer

Mitochondrial disorder

Question 10

Which diagnostic technique is primarily used to detect chromosomal abnormalities?

Accepted Answer

Karyotyping

Answer

DNA sequencing

Answer

Microarray analysis

Answer

Polymerase Chain Reaction (PCR)

Question 11

A mutation in a single gene can lead to which type of genetic disorder?

Accepted Answer

Single-gene disorder

Answer

Chromosomal disorder

Answer

Multifactorial disorder

Answer

Polygenic disorder

Question 12

In the context of genetic diagnosis and treatment, which ethical concern holds the utmost importance when utilizing CRISPR-Cas9 technology?

Accepted Answer

Potential for unintended consequences

Answer

Financial implications

Answer

Precision in diagnosis

Answer

Availability of the technology

Question 13

Which of the following is NOT a type of genetic disorder?

Accepted Answer

Acquired disorder

Answer

Single gene disorder

Answer

Chromosomal disorder

Answer

Multifactorial disorder

Question 14

Which of the following is the most prevalent form of chromosomal disorder?

Accepted Answer

Down syndrome

Answer

Turner syndrome

Answer

Klinefelter syndrome

Answer

Cri du chat syndrome

Question 15

What is the molecular basis of sickle cell anaemia?

Accepted Answer

Point mutation in the beta-globin gene

Answer

Deletion in the alpha-globin gene

Answer

Duplication in the haemoglobin gene

Answer

Inversion in the beta-globin gene

Question 16

Which of the following is a chromosomal disorder?

Accepted Answer

Down syndrome

Answer

Sickle cell anemia

Answer

Cystic fibrosis

Answer

Hemophilia

Question 17

Which of the following is a type of genetic disorder caused by an alteration in the chromosomal structure or number?

Accepted Answer

Chromosomal disorder

Answer

Single-gene disorder

Answer

Multifactorial disorder

Answer

Acquired disorder

Question 18

Which characteristic distinguishes an autosomal recessive allele from an autosomal dominant allele?

Accepted Answer

Requires homozygosity for phenotypic expression

Answer

Always dominant over other alleles

Answer

Carried only by males

Answer

Found only in females

Question 19

Which of the following genetic disorders is known for its progressive neurological deterioration due to a CAG trinucleotide repeat expansion in the huntingtin gene?

Accepted Answer

Huntington's disease

Answer

Sickle cell disease

Answer

Cystic fibrosis

Answer

Down syndrome

Question 20

Which of the following treatment modalities utilizes genetic engineering techniques to address the underlying genetic defect?

Accepted Answer

Gene therapy

Answer

Lifestyle modifications

Answer

Pharmacological interventions

Answer

Surgical procedures

Question 21

Which ethical concern is commonly raised in discussions about genetic testing?

Accepted Answer

Protecting patient privacy and confidentiality

Answer

Unclear regulatory guidelines

Answer

Limited availability of genetic counselors

Answer

High cost of genetic testing

Question 22

Which professional organization is recognized for establishing guidelines and standards for genetic counseling practices?

Accepted Answer

National Society of Genetic Counselors (NSGC)

Answer

World Health Organization (WHO)

Answer

National Institute of Health (NIH)

Answer

American Medical Association (AMA)

Question 23

Which genetic disorder is characterized by intellectual disability, distinctive facial features, and an extra copy of chromosome 21?

Accepted Answer

Down syndrome

Answer

Hemophilia

Answer

Sickle cell disease

Answer

Cystic fibrosis