BIO102 Ch14c
Multiple Allelism
- Definition: When a gene exists in more than two alleles within a population; this can result in many variations of a trait.
- Example: Human blood types, which include three alleles (IA, IB, i)
Codominance
- Definition: A situation where a heterozygote expresses both alleles equally, resulting in a phenotype that shows both traits.
- Example: In human blood types, individuals with genotype IAIB express both A and B antigens on their red blood cells.
Incomplete Dominance
- Definition: A form of inheritance where the phenotype of heterozygotes is intermediate between those of the two homozygotes.
- Example: Four-o'clocks produce pink flowers (F1) when red (RR) and white (rr) flowered plants are crossed. In the F2 generation, the ratio of red, pink, and white flowers is 1:2:1.
Pleiotropy
- Definition: A single gene influences multiple traits.
- Example: Marfan syndrome is caused by mutations in a single gene that affects several connective tissue characteristics, including:
- Nearsightedness
- Scoliosis
- Heart valve defects
Essential and Lethal Genes
- Essential Genes: Required for survival; mutations may lead to lethal phenotypes.
- Dominant Lethal Alleles: Causes death in both homozygous and heterozygous individuals (e.g., Huntington’s disease).
- Recessive Lethal Alleles: Causes death only in homozygous recessive individuals (e.g., Tays-Sachs disease).
Gene Interaction and Novel Phenotypes
- Two Genes Affecting One Trait: Interaction between different nonallelic genes can produce new phenotypes.
- Example: In chickens, comb shape is influenced by two genes (R and P), leading to variations in their phenotype while following Mendelian ratios.
Epistasis
- Definition: One gene locus masks or modifies the phenotype of another locus, resulting in altered phenotypic ratios.
- Example: Coat color in rodents where certain alleles can mask others, leading to ratios like 9:3:4.
- Types of Epistasis:
- Recessive Epistasis: Homozygous recessive at one locus affects the phenotype of another locus (e.g., white coat in mice).
- Dominant Epistasis: A dominant allele at one locus masks the expression of alleles at a different locus, resulting in ratios like 12:3:1.
Gene-By-Environment Interactions
Phenotype Expression: Many traits result from interactions between genes and environmental factors.
Penetrance: The proportion of individuals with a given genotype that exhibit the associated phenotype.
- Complete Penetrance: 100% of individuals show the phenotype.
- Incomplete Penetrance: Less than 100% show the phenotype (e.g., in some cancers).
Expressivity: The degree to which a penetrant gene manifests itself phenotypically. It can vary among individuals even with the same genotype.
Environmental Effects on Phenotype
- Factors influencing phenotypes can include:
- Age
- Sex
- Temperature
- Chemical Exposures
Extranuclear Inheritance
- Involves genes not located in the nucleus, such as those in mitochondria and chloroplasts.
- Mitochondrial genes often exhibit maternal inheritance patterns, affecting energy production in cells.
Human Inheritance Patterns
Pedigrees are used to track traits through generations, helping identify recessive, dominant, autosomal, and sex-linked traits.
Autosomal Recessive Traits: Traits that often skip generations; affected individuals have unaffected parents who are carriers.
Autosomal Dominant Traits: Traits that do not skip generations and affected individuals usually have at least one affected parent.
Sex-Limited Traits: Traits that are only expressed in one sex, such as milk production in females.
X-Linked Recessive Traits: Typically skip generations and affect males more than females, as males only need one recessive gene to be affected.
X-Linked Dominant Traits: Affects both males and females but cannot be passed from father to son.
Y-Linked Traits
- Contain genes primarily responsible for male sexual development; very few known traits are associated with the Y chromosome.