A. Mendelian Genetics
➢ Genetics=study of heredity
- Explains how certain characteristics are passed from parents to children
- Heredity=transmission of traits from one generation to the next
➢ Variation is demonstrated by the differences in appearance that offspring show from parents and siblings
➢ Physical traits are not inherited; genes are inherited
➢ Gregor Mendel=”father of genetics”
➢ Traits
- Expressed characteristics
■ character=feature(ex. Eye color); trait =specific version of that feature (ex. blue eyes) - Influenced by one or more genes
■ Gene=chunk of DNA that codes for a particular “recipe” - DNA is passed from generation to generation, and genes/traits go along with it
- Chromosome contains many genes, each controlling the inheritance of a particular trait
- Locus=position of a gene on a chromosome
- Children do not inherit physical traits; they inherit genes, which influence physical traits
■ Genes passed along by gametes (sperm/egg)
➢ clone=group of genetically identical individuals from same parent
- common in asexual reproduction
- Sexual reproduction creates genetic diversity
➢ Diploid organisms typically have 2 copies of a gene, one on each homologous chromosome
- Copies of chromosome may be different from each other, containing different alleles
➢ Homozygous=organism has 2 identical alleles for a given trait
➢ heterozygous=organisms has 2 different alleles for a given trait
➢ Phenotype=physical appearance
➢ Genotype=genetic makeup
➢ Dominant vs. recessive allele
- Dominant allele is determined by which allele is the phenotype of a heterozygous organism
- Dominant allele showed by capital letter; recessive allele showed by lowercase of same letter
➢ Crosses
- 1st generation in an experiment is always called the parent/P1 generation
- Offspring of P1 are called the filial/F1 generation
- Offspring of F1 are called F2 generation, etc.
➢ true-breeder=genetically pure; consistently produces same traits
➢ Law of Dominance
- One dominant trait masks the effect of the other trait
➢ Law of Segregation
- Monohybrid Cross
■ 2 heterozygous individuals are crossed
■ Ratios for cross of two heterozygotes
● Phenotype ratio= 3 dom.:1 rec.
● Genotype ratio= 1 homo dom: 2 het: 1 homo rec - Gametes only get one of the 2 copies of a gene
➢ Law of Independent Assortment
- Each allele of the two traits will get segregated into two gametes independently and randomly along Metaphase plate of meiosis I
- Each pair of chromosomes sorts maternal/paternal homologues independently of the other
pairs
○ For humans, (n=23), there are more than 8 million $(2^{23})$ possible combinations of
chromosomes, not including crossing over, mutations, etc.
○ Dihybrid cross
■ 2 heterozygotes for two genes are crossed
■ 9:3:3:1 ratio
■ Easier to use probability rather than a punnett square
➢ Random Fertilization also creates genetic variability
- Any sperm can fuse with any ovum
- 70 trillion diploid combinations
➢ Rules of Probability
- Probability of 2 independent traits occurring together= probability of trait A*probability of trait B
➢ Test Cross
- How to tell if an organism displaying dominant phenotype is homo-dom or het: USE TESTCROSS
- Breed mystery organism with a homo-rec
■ If all offspring display dom phenotype, the organism is homo-dom
■ If any offspring display rec phenotype, the organism is het
➢ Linked Genes: group of genes on same chromosome tend to stay together/inherited together
- Cannot segregate independently since they are on the same chromosome, violating the law of independent assortment
- Can only be separated by crossing-over
- recombinant=offspring formed from recombination events
■ Percentage of recombination=
● Can be used as a measure of how far apart genes are/order
● Distance on a chromosome is measured in map units aka centimorgans on a linkage map
● One map unit=$1%$ recombination frequency
● Farther apart 2 linked alleles are on a chromosome the more often the chromosome will cross over between them
● Genes on different chromosomes have $50% $recombination frequency
➢ Karyotype: ordered display of the pairs of chromosomes in a cell
- 2 chromosomes in a pair=homologous chromosomes
➢ PEdigrees: show family history of allele(S)
- Describes interrelationships of parents and children across generations
- Inheritance patterns of particular traits can be traced back and described using pedigrees
➢ Alterations of Chromosome Number/Structure
- Nondisjunction
■ Pairs of homologous chromosomes don’t separate properly during meiosis
■ One gamete receives 2 of the same type of chromosome (trisome) while the other receives none (monosome)
■ Results in Aneuploidy - Deletion
■ Removes a chromosomal segment
■ CDE➝CE - Duplication
■ Repeats a segment
■ CDE➝CDCDE - Inversion
■ Reverses orientation of segment within a chromosome
■ CDE➝EDC - Translocation
■ Moves a segment from one chromosome to another
➢ Genome imprinting
- Phenotype depends on which parent passed along alleles for trait
- Involves silencing of certain genes that are “stamped” with an imprint during gamete production
- Extranuclear genes are inherited maternally because the zygote’s cytoplasm comes from the egg
B. Sex-Linked Traits
➢ autosomes=non sex chromosomes
➢ Sex chromosomes determines sex of individual
- female=XX
- male=XY
➢ Some traits carried on sex chromosomes
- Ex. color blindness/hemophilia
- Most only found on X-chromosome (“X-linked traits”)
➢ Since males have one X and one Y chromosome, he’ll express the trait even if it is recessive since there is no second allele that would cover it up
➢ Female will only express sex-linked trait if trait is dominant or individual is homo rec
- carrier=female that carries trait but does not exhibit it
➢ Barr Bodies
- X chromosome that is condensed and visible
- Females only have one X chromosome activated; other X deactivated during embryonic development
■ Deactivated chromosome chosen randomly by each cell
➢ Incomplete dominance
- Aka blending inheritance
- Traits blend
- Alleles equally expressed
- Ex. red white=pink offspring
- Non dominant trait
➢ Codominance
- Equal expression of multiple alleles
- 2 alleles affect phenotype differently
■ Ex. blood type options: $I^A $, $I^B$ ,$ i$
➢ Polygenic inheritance
- Trait results from the interaction of many genes
➢ Non-nuclear inheritance
- Affected by genetic material in mitochondria
- Mitochondria always provided by egg during sexual reproduction
➢ Most genes have pleiotropy (have multiple phenotypic effects)
- Responsible for the multiple symptoms of hereditary diseases
➢ Epistasis: a gene at one locus alters the phenotypic expression of a gene at another locus
➢ Norm of Reaction: phenotypic range of a genotype influenced by environmental factors
- Multifactorial characters