Mendelian Genetics and Chromosomal Inheritance

Gregor Mendel: Father of genetics; conducted experiments with pea plants.
Key Principles:
- Law of Segregation: Alleles segregate during gamete formation; offspring inherit one allele from each parent.
- Law of Independent Assortment: Genes for different traits assort independently when gametes form.
Genotype and Phenotype:
- Genotype: Genetic makeup of an organism (e.g., AA, Aa, aa).
- Phenotype: Observable characteristics (e.g., flower color).
Dominant and Recessive Alleles:
- Dominant: Expressed when present (e.g., A).
- Recessive: Only expressed in homozygous condition (e.g., aa).

Chromosomes:
- Structures containing DNA; humans have 23 pairs.
Meiosis:
- Process of cell division that reduces chromosome number by half; leads to gamete formation.
Sex-linked Inheritance:
- Traits linked to sex chromosomes (e.g., color blindness linked to X chromosome).
Autosomal Inheritance:
- Traits located on non-sex chromosomes; can be dominant or recessive.

Definition: Permanent alterations in the DNA sequence of a gene.
Types of Mutations:
- Point Mutation: Change in a single nucleotide (e.g., substitution, insertion, deletion).
- Frameshift Mutation: Insertion or deletion of nucleotides that changes the reading frame.
Effects of Mutations:
- Can be beneficial, harmful, or neutral; may lead to genetic disorders.
Examples:
- Sickle cell anemia: caused by a point mutation in the hemoglobin gene.

Genetic Variation:
- Differences in alleles among individuals; essential for evolution and adaptation.
Sources of Variation:
- Mutations: Introduce new alleles into a population.
- Gene Flow: Movement of alleles between populations through migration.
- Sexual Reproduction: Combines genetic material from two parents, increasing variation.
Natural Selection:
- Process where individuals with advantageous traits survive and reproduce, influencing allele frequency.
Genetic Drift:
- Random changes in allele frequencies in a population, often significant in small populations.

Gregor Mendel is recognized as the Father of Genetics for his foundational experiments with pea plants.
Law of Segregation states that alleles segregate during gamete formation, leading offspring to inherit one allele from each parent.
Law of Independent Assortment indicates that genes for different traits assort independently during gamete formation.
Genotype represents the genetic constitution of an organism, such as homozygous (AA, aa) or heterozygous (Aa) combinations.
Phenotype refers to the observable traits or characteristics of an organism, exemplified by features like flower color.
Dominant alleles dominate expression when present (e.g., A), whereas recessive alleles only manifest when homozygous (e.g., aa).

Chromosomes are DNA-containing structures, and humans are equipped with 23 pairs, comprising a total of 46 chromosomes.
Meiosis is a specialized cell division process that reduces the chromosome number by half, crucial for gamete (sperm and egg) development.
Sex-linked inheritance pertains to traits associated with sex chromosomes, exemplified by color blindness, which is linked to the X chromosome.
Autosomal inheritance refers to traits located on non-sex chromosomes. These traits can exhibit dominant or recessive patterns.

Gene mutations consist of permanent changes in the DNA sequence of a gene, which can alter gene function.
Point mutations involve a modification of a single nucleotide, including substitution, insertion, or deletion variations.
Frameshift mutations result from inserting or deleting nucleotides, thus altering the entire reading frame of the gene.
The impact of mutations can vary; they may be beneficial, harmful, or neutral and can potentially lead to genetic disorders.
Sickle cell anemia exemplifies a genetic disorder caused by a point mutation in the hemoglobin gene.

Genetic variation encompasses differences in genotype and phenotype among individuals, playing a crucial role in evolution and adaptation.
Sources of genetic variation include mutations, which create new alleles within a population, and gene flow, which involves the transfer of alleles between populations via migration.
Sexual reproduction combines genetic material from two parents, increasing genetic diversity and variation within a population.
Natural selection is a process that favors individuals with advantageous traits, enhancing their survival and reproductive success while influencing allele frequencies.
Genetic drift reflects random changes in allele frequencies, particularly impactful in small populations, potentially leading to significant evolutionary changes over time.