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Human Genetic Variations and Abnormalities Quiz

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#1

Which of the following genetic disorders is caused by the presence of an extra chromosome 21?

Down syndrome
Explanation

Trisomy 21 leads to Down syndrome.

#2

What is the term for a sudden, non-inherited change in the DNA sequence?

Mutation
Explanation

Mutation refers to sudden DNA sequence changes.

#3

In humans, what is the approximate number of chromosomes in a diploid cell?

46
Explanation

Humans typically have 46 chromosomes.

#4

What is the term for the specific location of a gene on a chromosome?

Locus
Explanation

Locus refers to gene's chromosomal position.

#5

Which of the following is a genetic disorder characterized by the inability to properly metabolize the amino acid tyrosine?

Phenylketonuria (PKU)
Explanation

PKU causes tyrosine metabolism impairment.

#6

In genetics, what term refers to the observable characteristics or traits of an organism?

Phenotype
Explanation

Phenotype depicts observable traits.

#7

Which of the following is a sex-linked genetic disorder?

Hemophilia
Explanation

Hemophilia is a sex-linked disorder.

#8

What is the name of the genetic disorder characterized by an inability to break down phenylalanine, leading to intellectual disabilities if untreated?

Phenylketonuria (PKU)
Explanation

PKU results from phenylalanine breakdown inability.

#9

What is the term for the inheritance pattern in which both alleles of a gene are expressed in the phenotype?

Codominance
Explanation

Codominance exhibits both alleles' expression.

#10

Which of the following genetic disorders is caused by a mutation in the CFTR gene resulting in abnormal chloride ion transport?

Cystic fibrosis
Explanation

Cystic fibrosis stems from CFTR gene mutation.

#11

Which of the following genetic disorders is characterized by progressive degeneration of nerve cells in the brain?

Huntington's disease
Explanation

Huntington's disease involves nerve cell degeneration.

#12

Which of the following is a characteristic of a recessive genetic disorder?

Affected individuals have unaffected parents
Explanation

Recessive disorders often skip generations.

#13

Which of the following is an example of a chromosomal abnormality?

Down syndrome
Explanation

Down syndrome exemplifies chromosomal abnormality.

#14

What is the term for the phenomenon in which individuals with different genotypes display the same phenotype?

Genetic heterogeneity
Explanation

Genetic heterogeneity shows varied genotypes but same phenotype.

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