Biology

Human Genetics and Disorders

844 Questions

Human Genetics and Disorders covers the inheritance patterns, genetic mutations, and molecular basis of hereditary diseases. Topics include sex-linked traits, cancer genetics, and metabolic disorders. This section tests knowledge critical for biology exams and general science papers.

Genetic mutationsInherited disordersCancer geneticsGenetic testingMendelian inheritance

Human Genetics and Disorders Questions

Multiple choice

What is the molecular basis of Fragile X syndrome?

  1. Expansion of a CGG trinucleotide repeat in the FMR1 gene

  2. Deletion of the FMR1 gene

  3. Mutation in the FMR1 gene

  4. Duplication of the FMR1 gene
Reveal answer Fill a bubble to check yourself
A Correct answer
Explanation

Fragile X syndrome is caused by the expansion of a CGG trinucleotide repeat in the FMR1 gene.

Multiple choice

What is the molecular basis of Rett syndrome?

  1. Mutation in the MECP2 gene

  2. Deletion of the MECP2 gene

  3. Duplication of the MECP2 gene

  4. Expansion of a CGG trinucleotide repeat in the MECP2 gene
Reveal answer Fill a bubble to check yourself
A Correct answer
Explanation

Rett syndrome is caused by mutations in the MECP2 gene.

Multiple choice

What is the molecular basis of Angelman syndrome?

  1. Deletion of the UBE3A gene

  2. Mutation in the UBE3A gene

  3. Duplication of the UBE3A gene

  4. Expansion of a CGG trinucleotide repeat in the UBE3A gene
Reveal answer Fill a bubble to check yourself
A Correct answer
Explanation

Angelman syndrome is caused by the deletion of the UBE3A gene.

Multiple choice

What is the molecular basis of Prader-Willi syndrome?

  1. Deletion of the SNRPN gene

  2. Mutation in the SNRPN gene

  3. Duplication of the SNRPN gene

  4. Expansion of a CGG trinucleotide repeat in the SNRPN gene
Reveal answer Fill a bubble to check yourself
A Correct answer
Explanation

Prader-Willi syndrome is caused by the deletion of the SNRPN gene.

Multiple choice

What is the molecular basis of Williams syndrome?

  1. Deletion of the ELN gene

  2. Mutation in the ELN gene

  3. Duplication of the ELN gene

  4. Expansion of a CGG trinucleotide repeat in the ELN gene
Reveal answer Fill a bubble to check yourself
A Correct answer
Explanation

Williams syndrome is caused by the deletion of the ELN gene.

Multiple choice

What is the molecular basis of DiGeorge syndrome?

  1. Deletion of the 22q11.2 region

  2. Mutation in the 22q11.2 region

  3. Duplication of the 22q11.2 region

  4. Expansion of a CGG trinucleotide repeat in the 22q11.2 region
Reveal answer Fill a bubble to check yourself
A Correct answer
Explanation

DiGeorge syndrome is caused by the deletion of the 22q11.2 region.

Multiple choice

Which genetic factor is strongly associated with obesity?

  1. FTO gene

  2. MC4R gene

  3. LEP gene

  4. ADIPOR1 gene
Reveal answer Fill a bubble to check yourself
A Correct answer
Explanation

The FTO gene is the most strongly associated genetic factor with obesity, with variations in this gene linked to increased body fat accumulation.

Multiple choice

What are some examples of genetic diseases that are caused by mutations?

  1. Sickle cell anemia, cystic fibrosis, and Huntington's disease

  2. Cancer, heart disease, and diabetes

  3. Alzheimer's disease, Parkinson's disease, and multiple sclerosis

  4. HIV/AIDS, influenza, and tuberculosis
Reveal answer Fill a bubble to check yourself
A Correct answer
Explanation

Sickle cell anemia, cystic fibrosis, and Huntington's disease are all examples of genetic diseases that are caused by mutations.

Multiple choice

Which gene is responsible for regulating the formation of the body's left-right asymmetry?

  1. Shh

  2. Nodal

  3. Pitx2

  4. Lefty2
Reveal answer Fill a bubble to check yourself
B Correct answer
Explanation

Nodal is a gene that plays a crucial role in regulating the formation of the body's left-right asymmetry, determining the positioning of internal organs.

Multiple choice

Which of the following is NOT a type of developmental anomaly?

  1. Teratology

  2. Congenital malformation

  3. Birth defect

  4. Genetic disorder
Reveal answer Fill a bubble to check yourself
D Correct answer
Explanation

Genetic disorder is not a type of developmental anomaly, but rather a condition caused by a genetic mutation.

Multiple choice

Which of the following is a Y-linked gene?

  1. SRY

  2. BRCA1

  3. CFTR

  4. HBB
Reveal answer Fill a bubble to check yourself
A Correct answer
Explanation

SRY is a Y-linked gene that encodes the sex-determining region Y protein. This protein is responsible for triggering the development of male sex organs.

Multiple choice

What is the name of the condition that results from a mutation in the SRY gene?

  1. Klinefelter syndrome

  2. Turner syndrome

  3. Androgen insensitivity syndrome

  4. Swyer syndrome
Reveal answer Fill a bubble to check yourself
D Correct answer
Explanation

Swyer syndrome is a condition that results from a mutation in the SRY gene. This condition is characterized by the presence of female external genitalia and the absence of internal reproductive organs.

Multiple choice

What is the name of the gene that encodes clotting factor VIII?

  1. F8

  2. F9

  3. VWF

  4. FIX
Reveal answer Fill a bubble to check yourself
A Correct answer
Explanation

The name of the gene that encodes clotting factor VIII is F8.

Multiple choice

What is the most common genetic cause of autism spectrum disorder?

  1. Fragile X syndrome

  2. Down syndrome

  3. Rett syndrome

  4. Angelman syndrome
Reveal answer Fill a bubble to check yourself
A Correct answer
Explanation

Fragile X syndrome is a genetic disorder caused by a mutation in the FMR1 gene, and it is the most common genetic cause of autism spectrum disorder.

Multiple choice

Which of the following is an example of an inborn error of metabolism?

  1. Phenylketonuria (PKU)

  2. Cystic fibrosis

  3. Sickle cell anemia

  4. Multiple sclerosis
Reveal answer Fill a bubble to check yourself
A Correct answer
Explanation

Phenylketonuria (PKU) is a classic example of an inborn error of metabolism. It is caused by a defect in the enzyme that converts phenylalanine to tyrosine, leading to the accumulation of phenylalanine in the body.