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Pedigree Chart
A diagram that models the inheritance of phenotypes from one generation to the next.
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.
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.
Epistasis
The interaction between genes where one gene masks or interferes with the expression of another.
Polygenic Inheritance
An inheritance mechanism involving multiple genes that collectively determine a particular phenotype.
Dominant Allele
An allele that is expressed in the phenotype even when only one copy is present.
Heterozygous
Having two different alleles for a specific gene.
Genotype
The genetic makeup of an individual, representing a combination of alleles.
Phenotype
The physical expression or characteristics of a genotype.
Incomplete Penetrance
A situation in which not all individuals with a mutant genotype display the mutant phenotype.
Carrier
An individual who has one copy of a recessive allele that does not manifest the phenotype.
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.
Mitochondrial Disorders
Genetic conditions that are inherited only through the maternal lineage due to mutations in mitochondrial DNA.
Autosomal Dominant
An inheritance pattern where only one mutated allele is enough to cause the condition, and affected individuals usually have an affected parent.
Square Symbol
In a pedigree chart, represents a male individual.
Circle Symbol
In a pedigree chart, represents a female individual.
Diamond Symbol
In a pedigree chart, used for individuals whose gender is not identified.
Affected Individual
In pedigree charts, represented by a shaded shape indicating they have a particular condition or trait.
Siblings Representation
In pedigree charts, usually shown from left to right according to birth order.
Nucleotide
The basic building block of nucleic acids, consisting of a sugar, a phosphate group, and a nitrogenous base.
Allele
A variant form of a gene that can result in different traits or characteristics.
Homozygous
Having two identical alleles for a specific gene.
Genetic Drift
The change in allele frequency in a population due to random sampling or chance events.
Natural Selection
The process by which individuals with favorable traits are more likely to survive and reproduce.
Phenotypic Variation
Differences in appearance or function from one individual to another within the same species, influenced by genotype and environment.
Mutation
A change in the DNA sequence that can lead to new traits, which may be beneficial, neutral, or harmful.
Gene Flow
The transfer of genetic material between populations, which can increase genetic diversity.
Punnett Square
A diagram used to predict the genotypic and phenotypic outcomes of a genetic cross.
Heterozygous Advantage
A phenomenon where individuals with two different alleles for a gene have a greater fitness than those who are homozygous.
Pleiotropy
The ability of a single gene to influence multiple phenotypic traits.
Sex-linked Traits
Traits that are associated with genes located on sex chromosomes, often showing different patterns of inheritance in males and females.
Genomic Imprinting
A genetic phenomenon where certain genes are expressed in a parent-of-origin-specific manner.
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.
Locus
The specific physical location of a gene or a significant sequence on a chromosome.
Recessive Allele
An allele that is masked by the presence of a dominant allele and only expressed when two copies are present.
Meiosis
The process of cell division that results in four genetically diverse gametes, each having half the number of chromosomes of the original cell.
Chromosome
A structure made of DNA and protein that carries genetic information; humans typically have 46 chromosomes.
Karyotype
A visual representation of an individual's chromosomes, used to detect chromosomal abnormalities.
