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38 Terms

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Pedigree Chart

A diagram that models the inheritance of phenotypes from one generation to the next.

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Autosomal Recessive

A mode of inheritance where affected individuals have two copies of the mutated gene, and the condition is often passed from carrier parents.

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X-linked Recessive

A mode of inheritance where conditions are more common in males, who have only one X chromosome, while females need two copies to express the condition.

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Epistasis

The interaction between genes where one gene masks or interferes with the expression of another.

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Polygenic Inheritance

An inheritance mechanism involving multiple genes that collectively determine a particular phenotype.

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Dominant Allele

An allele that is expressed in the phenotype even when only one copy is present.

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Heterozygous

Having two different alleles for a specific gene.

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Genotype

The genetic makeup of an individual, representing a combination of alleles.

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Phenotype

The physical expression or characteristics of a genotype.

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Incomplete Penetrance

A situation in which not all individuals with a mutant genotype display the mutant phenotype.

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Carrier

An individual who has one copy of a recessive allele that does not manifest the phenotype.

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X-linked Dominant

A mode of inheritance where affected fathers pass the allele to all daughters; sons have a 50% chance of being affected if the mother is heterozygous.

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Mitochondrial Disorders

Genetic conditions that are inherited only through the maternal lineage due to mutations in mitochondrial DNA.

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Autosomal Dominant

An inheritance pattern where only one mutated allele is enough to cause the condition, and affected individuals usually have an affected parent.

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Square Symbol

In a pedigree chart, represents a male individual.

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Circle Symbol

In a pedigree chart, represents a female individual.

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Diamond Symbol

In a pedigree chart, used for individuals whose gender is not identified.

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Affected Individual

In pedigree charts, represented by a shaded shape indicating they have a particular condition or trait.

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Siblings Representation

In pedigree charts, usually shown from left to right according to birth order.

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Nucleotide

The basic building block of nucleic acids, consisting of a sugar, a phosphate group, and a nitrogenous base.

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Allele

A variant form of a gene that can result in different traits or characteristics.

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Homozygous

Having two identical alleles for a specific gene.

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Genetic Drift

The change in allele frequency in a population due to random sampling or chance events.

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Natural Selection

The process by which individuals with favorable traits are more likely to survive and reproduce.

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Phenotypic Variation

Differences in appearance or function from one individual to another within the same species, influenced by genotype and environment.

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Mutation

A change in the DNA sequence that can lead to new traits, which may be beneficial, neutral, or harmful.

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Gene Flow

The transfer of genetic material between populations, which can increase genetic diversity.

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Punnett Square

A diagram used to predict the genotypic and phenotypic outcomes of a genetic cross.

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Heterozygous Advantage

A phenomenon where individuals with two different alleles for a gene have a greater fitness than those who are homozygous.

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Pleiotropy

The ability of a single gene to influence multiple phenotypic traits.

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Sex-linked Traits

Traits that are associated with genes located on sex chromosomes, often showing different patterns of inheritance in males and females.

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Genomic Imprinting

A genetic phenomenon where certain genes are expressed in a parent-of-origin-specific manner.

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Threshold Trait

A trait that is influenced by multiple genes and environmental factors, where a certain threshold must be crossed for the trait to be expressed.

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Locus

The specific physical location of a gene or a significant sequence on a chromosome.

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Recessive Allele

An allele that is masked by the presence of a dominant allele and only expressed when two copies are present.

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Meiosis

The process of cell division that results in four genetically diverse gametes, each having half the number of chromosomes of the original cell.

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Chromosome

A structure made of DNA and protein that carries genetic information; humans typically have 46 chromosomes.

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Karyotype

A visual representation of an individual's chromosomes, used to detect chromosomal abnormalities.