Human Genetics Quiz

A mutation where a single amino acid is replaced with another.

Mutations are alterations in genes that can lead to the development of inherited diseases by disrupting the normal function of proteins.

An autosomal dominant inheritance pattern is characterized by the transmission of a trait or disorder from a single copy of a mutated gene.

Chromosomal abnormalities, such as deletions, duplications, or translocations, can disrupt gene function and lead to genetic disorders.

Penetrance refers to the likelihood that an individual with a particular genotype will actually express the associated phenotype.

A change in a DNA sequence.

The probability of having a child with an autosomal recessive disorder is 25% if both parents are carriers.

Huntington's disease is an example of an autosomal dominant disorder caused by a mutation in the HTT gene.

Newborn screening tests are used to identify genetic disorders in newborns before symptoms appear. These tests can help detect conditions that may require early intervention.

A mutation is a change in the DNA sequence. Mutations can lead to inherited diseases when they disrupt the function of proteins.

The idea that different pairs of alleles are passed to offspring during gamete formation is known as Mendel's Law of Segregation.

Turner's syndrome is a genetic disorder that affects females. It's characterized by the absence or partial absence of one X chromosome.

The rate-limiting step in the synthesis of purine nucleotides is the reaction catalyzed by the enzyme glutamine phosphoribosylpyrophosphate amidotransferase (GPAT).

The normal human diploid number is 46 chromosomes, organized into 23 pairs.

Patients with genetic syndromes, such as Down syndrome or Klinefelter syndrome, have a higher risk of developing childhood cancers.

An isochromosome is a chromosome with identical arms. The presence of this type of chromosome can lead to specific syndromes, depending on the chromosome involved.

The normal diploid number of chromosomes in human cells, meaning there are two sets of each chromosome, for a total of 46.

Adenine (A) in DNA always pairs with thymine (T).

Genetic testing can provide information about a person's risk for developing certain diseases, their ancestry, and their carrier status for genetic disorders.

Genetic disorders are caused by alterations in genes, leading to abnormal protein function or production.

A genotype refers to the genetic makeup of an individual, represented by the combination of alleles they possess for a particular gene.

Family history is an important factor in assessing genetic risks, as it reveals patterns of disease occurrence within a family.

A genetic disorder caused by a mutation on the sex chromosomes (X or Y) is referred to as a sex-linked disorder.

A mutation is a permanent change in the DNA sequence of a gene. It can be a single base change or a larger deletion or insertion.

A change in the sequence of DNA, which can lead to changes in protein function and inherited diseases.

The observable characteristics of an individual, resulting from the interaction of genotype and environment.

A genetic disorder that affects males more than females.

The likelihood that an individual with a specific genetic mutation will actually exhibit symptoms of the associated disorder.

The complete set of genetic information in an organism.

A change in a single nucleotide within a gene.

A change in the DNA that results in a different amino acid being incorporated into a protein.

A disorder caused by a mutation in a single gene.

A genetic disorder caused by a change in the number of chromosomes. The most common form is Trisomy 21, where an individual has three copies of chromosome 21 instead of two.

The likelihood of passing on a genetic disorder to the next generation. It is related to the type of inheritance pattern of the disorder.

A disorder caused by a mutation in a single gene that is inherited in an autosomal dominant pattern. This means that only one copy of the mutated gene is needed for an individual to have the disorder.

A carrier of a recessive genetic disorder has one copy of the mutated gene and one copy of the normal gene. These individuals do not have the disorder themselves but can pass on the mutated gene to their children.

A genetic disorder caused by changes in multiple genes and environmental influences. These disorders are complex and may have a range of severity depending on the individual's genetic makeup and environmental exposures.

The location of a gene on a chromosome.

The term 'dominant' applies equally to alleles located on the X and Y chromosomes, meaning that a dominant allele on either chromosome will express its trait regardless of the other chromosome.

X-inactivation is a process where one of the two X chromosomes in females is randomly inactivated in each cell. Once this decision is made, all descendant cells from that cell will continue with the same X-inactivation pattern.

Mosaicism refers to the phenomenon where an individual's cells have different genetic compositions due to random X-inactivation during development. This is an inevitable result of the X-inactivation process in females.

Genetic diseases that are treatable and/or preventable hold significant promise for improving patient health outcomes. Advances in medicine and technology often make it possible to mitigate the severity of these conditions.

Glutamate Dehydrogenase is an enzyme that catalyzes the reversible conversion of glutamate to α-ketoglutarate. This enzyme plays an essential role in amino acid metabolism and the energy production cycle within the body.

The almost always display short stature is referring to a characteristic often occurring in people with Turner Syndrome. This is caused by the absence of one X chromosome, disrupting normal growth and development.