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Genetics
Study of heredity and variation in organisms
Chromosomal Theory of Inheritance
Genes are carried on chromosomes, and their behavior during meiosis explains inheritance
Epigenesis
Theory that an organism develops from a fertilized egg through developmental events (contrasts preformation)
Preformation
Old theory that a fertilized egg contains a miniature adult (homunculus)
Natural Selection
Process where individuals with advantageous traits survive and reproduce more successfully
Descent with Modification
Darwin’s idea that species evolve over time from common ancestors
Transformation (Griffith)
Process by which genetic material is transferred between bacteria, altering phenotype
DNA as Genetic Material
Discovered by Avery, MacLeod, and McCarty (1944) — DNA, not protein, carries hereditary information
Double Helix
Model of DNA structure proposed by Watson and Crick (1953)
Mitosis
Type of cell division that produces two genetically identical daughter cells
Meiosis
Type of cell division that produces four genetically diverse haploid gametes
Homologous Chromosomes
Chromosome pairs, one from each parent, that are similar in shape, size, and gene content
Sister Chromatids
Two identical copies of a chromosome connected at the centromere
Centromere
Region where sister chromatids are joined and spindle fibers attach
Crossing Over
Exchange of genetic material between nonsister chromatids during Prophase I of meiosis
Independent Assortment
Random distribution of homologous chromosomes during Metaphase I of meiosis
Synapsis
Pairing of homologous chromosomes during Prophase I
Tetrad
Structure of four chromatids (two homologous chromosomes, each with two sister chromatids)
Gamete
Haploid reproductive cell (sperm or egg)
Polar Body
Small nonfunctional cell produced during oogenesis
Allele
Alternative form of a gene
Genotype
Genetic makeup of an organism (the alleles present)
Phenotype
Observable traits of an organism
Homozygous
Genotype with two identical alleles (AA or aa)
Heterozygous
Genotype with two different alleles (Aa)
Dominant Allele
Allele that masks the expression of a recessive allele in a heterozygote
Recessive Allele
Allele whose expression is masked in a heterozygote
Law of Segregation
Mendel’s principle that alleles separate during gamete formation
Law of Independent Assortment
Mendel’s principle that different gene pairs assort independently in gametes
Testcross
Cross used to determine an unknown genotype by mating with a homozygous recessive
Monohybrid Cross
Cross involving one trait (Aa × Aa)
Dihybrid Cross
Cross involving two traits (AaBb × AaBb)
Chi-Square Test
Statistical test used to compare observed vs. expected genetic ratios
Incomplete Dominance
When the heterozygote phenotype is intermediate (blending) between two homozygotes
Codominance
When both alleles in a heterozygote are fully expressed (e.g., AB blood type)
Multiple Alleles
When more than two allele forms exist for a gene (e.g., ABO blood group)
Epistasis
Interaction between genes where one masks or modifies the effect of another
Complementation
When two recessive mutations in different genes restore a wild-type phenotype when combined
Lethal Allele
Allele that causes death when present in certain genotypes
Pleiotropy
Single gene affects multiple traits (e.g., Marfan syndrome)
Penetrance
Proportion of individuals with a genotype who actually express the expected phenotype
Expressivity
Degree to which a genotype is expressed in an individual
Sex Determination
Process that directs development into male or female
SRY Gene
“Sex-determining Region on the Y” gene that initiates male development
Pseudoautosomal Region (PAR)
Regions of homology on X and Y chromosomes that allow pairing during meiosis
X-Inactivation
Random silencing of one X chromosome in female mammals to balance dosage
Lyon Hypothesis
Proposes that one X chromosome is randomly inactivated in female cells early in development
Barr Body
Inactivated X chromosome visible in the nucleus of female cells
Dosage Compensation
Mechanism that balances expression of X-linked genes between males and females
Turner Syndrome
Disorder with karyotype 45,X (sterile female, short stature)
Klinefelter Syndrome
Disorder with karyotype 47,XXY (male, tall, sterile)
Trisomy X
Disorder with karyotype 47,XXX (phenotypically normal female, sometimes reduced IQ)
Double-Y Syndrome
Disorder with karyotype 47,XYY (tall male, sometimes antisocial behavior)
Haplodiploidy
Sex-determination system in bees/ants/wasps where males are haploid and females are diploid
Temperature-Dependent Sex Determination
Sex determined by environmental temperature (seen in reptiles like turtles and crocodiles)
Xist Gene
Gene required for X inactivation