Unit 2: Genetic Processes

-15 points Multiple Choice

-35 points Written Work (including genetics problems)

 What is genetics?
Genetics is the scientific study of heredity and variation.

Eventually cells need to duplicate. There are two main methods of replication, mitosis and meiosis.
 Mitosis
-Every cycle has a beginning and an end, but as soon as the first cycle ends, the next one begins.
-The cell cycle has three phases: interphase, mitosis, and cytokinesis.
Interphase: Cell is growing, replicating DNA, preparing for cell division
Mitosis: division of nucleus. Takes place in four phases (PMAT):
1) prophase – nuclear membrane dissolves
2) metaphase – chromosomes line up in the middle of the cell
3) anaphase – daughter chromosomes move to opposite ends of the cell
4) telophase – new nuclear membrane forms around each group
Cytokinesis: division of the rest of the cell. Cytoplasm divides, producing two genetically identical
daughter cells
 Reproduction and Meiosis
-Interphase: Chromosomes replicate (consist of two sister chromatids joined at the centromere)
-Prophase 1: Chromosomes come together in a homologous pair. Some chromatids from different
chromosomes break and reattach to each other (each chromosome is made up of two chromatids)
tetrad: pair of chromosomes and four chromatids
Synapsis: physical pairing up of homologous chromosomes during prophase 1
Crossing over: exchange of chromosome segments between homologous pairs during synapsis
-Metaphase 1: Tetrads align across middle of cell
-Anaphase 1: Homologous chromosomes move to opposite poles of cell. Reduction division occurs,
where only one chromosome from each homologous pair will be found in each new daughter cell.
-Telophase 1: Nuclear membranes form around chromosomes and cells divide. Unlike mitosis, the
chromosomes in the two nuclei do not have identical gene content. Each daughter nucleus receives one
member of chromosome pair. These cells are now haploid.
-Meiosis 2: Each haploid daughter cell still contains two sister chromatids. No duplication of DNA
between meiosis 1 and 2.
-Prophase 2: Nuclear membrane dissolves and spindle fibers form.
-Metaphase 2: Chromosomes align along middle of cell.
-Anaphase 2: Sister chromatids move to opposite poles of cell. Nuclear membrane starts to form around
chromatids, now called chromosomes.
-Telophase 2: Second nuclear division is completed, then cytoplasm divides (cytokinesis)
Four haploid daughter cells produced. The recombination of genetic information during crossing over
produces gametes that are genetically different from each other.
Random assortment of homologous chromosomes: Recall, homologous chromosomes pair up during
prophase 1 and metaphase 1, then separate in anaphase 1. There are many different combinations of
chromosomes for a daughter cell, depending on how many chromosomes a species has.
-Non-disjunction: failure of homologous chromosomes to move to opposite poles of cell; results in
daughter cells receiving extra or missing chromosomes, and these cells cannot function normally.
-Trisomy: chromosomal abnormality in which there are three homologous chromosomes in place of pair
-Monosomy: chromosomal abnormality in which there is one homologous chromosome in place of pair
 Gametogenesis
-the formation of gametes in meiosis. Although human male and female gametes both follow the
general process of meiosis, some differences exist.
-spermatogenesis: the production of sperm cells. The cytoplasm is divided equally during each cell
division, forming four equal-sized sperm cells. Each of the four sperm cells is small and streamlined for
maximum motility (ability of an object to move)
-oogenesis: production of egg cells (ova). The female gametes do not divide equally during each of the
two cell divisions of meiosis: one of the daughter cells receives most of the cytoplasm instead. The other
cells, called polar bodies, die, and the final product of oogenesis is a single ovum (egg cell).

*Males and females in a species have different reproductive chromosomes. The larger type of chromosome
is an X chromosome, while the smaller is a Y chromosome. Females have two X chromosomes, while males
have an X and a Y chromosome.

-How does meiosis increase genetic diversity?

During fertilisation, 1 gamete from each parent combines to form a zygote. Because of recombination
during prophase 1 and independent assortment in meiosis, each gamete contains a different set of DNA.
This produces a unique combination of genes in the zygote.

Mendelian Genetics
-trait: a particular version of a characteristic that is inherited
-all diversity rests on mutations
-dominant/recessive allele
-complete dominance: one allele completely takes over that phenotype -> not the case in reality
-incomplete dominance: one allele cannot dominate other; they work together and create new phenotype
-codominance: two phenotypes expressed at same time; two alleles, both get expressed
*truebreeding: homozygous
-monohybrid: parents differ in one trait
-dihybrid cross: parents differ in two traits (wrinkled, green; round, yellow) *alphabetical and dominant
before recessive
-continuous variation: range between two characteristics, like skin colour
-discontinuous variation: two characteristics have no in between, just one or other
-pedigree charts: chart that traces the inheritance of a trait among family members
-X-linked recessive inheritance: recessive gene alteration caused by X-chromosome. Since males have only
one X-chromosome, if they have it they will develop condition. Since females have two X-chromosomes, the
unaltered one compensates for altered one. If she has an altered one, she is a carrier of the condition. Males
transmit Y chromosome to sons and X to daughters, so if father has it, son will not develop condition but
daughter will carry. If mom has it, there is 50% chance for son to develop and daughter to carry condition.
-X-linked dominant: dominant condition on X chromosome. Condition is expressed in both males and
females, though males tend to have more significant disease. Disorders inherited like this are relatively rare.
-karyotypes: picture of chromosomes that have been arranged in number, size, shape or other characteristic

 DNA Structure
-4 nucleotides: adenine, cytosine, thymine, guanine
-adenine-guanine (two rings, G has oxygen hanging off) / cytosine-thymine (one ring, no oxygen)
-nitrogenous bases act as base
-our 3 billion nitrogenous bases are based on these 4 and their order
- deoxyribo – nucleic – acid
(deoxyribo sugar) (of the nucleus) (phosphate group overwhelms nitrogenous base)
-adenine and thymine are complementary (A-T)
guanine and cytosine are complemetnary (G-C)
 Mutations
-mutations have to do with sequence of nitrogenous bases
-the essence of all diversity is essentially from mutations, from meiosis, to fertilizations, etc.
-depend son where mutation occurs for evolution
*has to happen in germline, sperm/egg, to pass on

Keyterms
heredity -
genes – segments of DNA that code for particular traits
traits – visible expression of genes and the organism’s environment
genotype – genetic structure
phenotype – observable traits
autosomes – not reproductive chromosomes
allele: some genes have a variety of different forms, an allele is one of them
independent assortment: alleles of one gene separate into gametes randomly with alleles of other gene
gametes: reproductive cells containing only one copy of each gene
gene: heritable entity that determines characteristic

segregation: separation of two alleles of a gene into different gametes

heterozygote: individual with two different alleles of a gene
testcross: cross of an individual of ambiguous genotype with a homozygous recessive individual
homozygote: having two identical alleles of a given gene