Cytogenetics

LESSON 1: Introduction to Cytogenetics

Genetics come from the word"gen" which means to become or grow into something.
coined by William Bateson in 1906.
branch of biology that deals with the principles of heredity and variation of living things.
affects all aspects of biology. as well as natural and behavioral sciences.

Genetics seek to understand:

1. the molecular and physical bases of biological diversity.
2. mechanisms resulting from these diversities.
3. principles that govern their heredity from one generation to another

Inheritance Theories Throughout the Years

1. Blending- the theory that offspring have a blend, or mix, of the characteristics of their parents. Mendel noticed
plants in his own garden that weren't a blend of the parents.
2. Theory of Pangenesis (Aristotle/ Charles Darwin)- The theory suggested that an organism's environment
could modify the gemmules in any parts of the body, and that these modified gemmules would congregate in
the reproductive organs of parents to be passed on to their offspring.
3. Theory of Inheritance of Acquired Characteristics- The inheritance of such a characteristic means its
reappearance in one or more individuals in the next or in succeeding generations.
4. Germplasm Theory- inheritance in a multicellular organism only takes place by means of the germ cells: the
gametes, such as egg cells and sperm cells. Other cells of the body do not function as agents of heredity.
5. Chromosome Theory of Inheritance- states that genes are found at specific locations on chromosomes, and
that the behavior of chromosomes during meiosis can explain Mendel's laws of inheritance.

Create PDF in your applications with the Pdfcrowd HTML to PDF API PDFCROWD
 Contributions in Cytogenetics

Persons Contributions
Year
Untitled Greeks Lineages of gods and kings.

Untitled Aristotle Theory of Pangenesis

Karl Wilhem
1842 Discovered chromosomes in plant cells.
Von Nageli

Gregor
1865 — Published his experiments on pea plants (Pisum sativum) — Father of Modern Genetics
Mendel
Friedrich
1873 Anton First account of mitosis.
Scheneider
William
1879 Longitudinal splitting of chromosomes during cell division.
Flemming
Showed that somatic cells contain diploid number of chromosomes while gametes contain haploid
1883 Van Benden
number.
Walter Sutton
1902 and Theodor Proposed the Chromosome Theory of Inheritance.
Boveri
— Discovered the inheritance pattern and metabolic nature of "ALKAPTONURIA". — Alkaptonuria- a
Archibald rare genetic metabolic disorder characterized by the accumulation of homogentisic acid in the body.;
1902
Garrod Affected individuals may have dark urine or urine that turns black when exposed to air. — coined the
term "inborn error of metablism"

Create PDF in your applications with the Pdfcrowd HTML to PDF API PDFCROWD
 Persons Contributions
Year
Edmund
Beecher
1905 Wilson and Proposed that certain chromosomes determine sex.
Nettie Maria
Stevens

William
1906 Coined the term "genetics"
Bateson

Wilhelm
1909 Coine the terms gene, genotype and phenotype.
Johannsen

Thomas Hunt Proved that genes are carried on chromosomes. He also showed that some characteristics are carried
1910
Morgan on the sex chromosomes.

Frederick
1928 Discovered transformation in bacteria.
Griffith
Oswald Avery,
Colin
1944 MacLeod, and Identified DNA as a genetic material.
Maclyn
McCarty

Alfred
1952 Hershey and Further confirmed that DNA is the genetic material.
Martha Chase

James
1953 Watson and DNA Structure
Francis Crick

Matthew
1958 Meselson and semi-conservative DNA replication.
Franklin Stahl

Create PDF in your applications with the Pdfcrowd HTML to PDF API PDFCROWD
 Year Persons Contributions

Robertson
1985 Pioneered discussions to sequence human genome.
Sinsheimer

1986 Fred Sanger Polymerade Chain Reaction (PCR)

1990s-
Human Genome Project
2000s

Branch of Genetics
CYTOGENETICS- study of chromosomes; provides cytological explanation of different genetic principles
MOLECULAR GENETICS- study of chemical structureof gene at molecular level; also includes the
function of the gene and the regulation of its activity.
BIOCHEMICAL GENETICS- study of metabolic processes in association with the genetic control of enzyme
production.; deals with the "inborn errors of metabolism".
CANCER GENETICS- study of genetic mutations that leads to cancer.
IMMUNOGENETICS- study of genetics of antibody production.
DEVELOPMENTAL GENETICS- study of genetic control throughout the embryonic development.
BEHAVIORAL GENETICS- study of the influence of genes on the behavior of an individual.
POPULATION GENETICS- study of the laws of genetics acting on human population; deals with the
frequencies of genes in human population and the rate at which they mutate.

Introduction to Cytology
CELL STRUCTURE AND FUNCTIONS
CELL MEMBRANE

a.) phospolipid bilayer

b.) cholesterol

Create PDF in your applications with the Pdfcrowd HTML to PDF API PDFCROWD
 c.) proteins: integral membrane proteins (transmembrane), peripheral membrane proteins (inner/outer)

d.) glycoalyx (cell coat): glycoproteins and glycolipids

e.) unit membrane

CYTOPLASM

a.) cytoplasmic matrix (cytosol)

b.) cytoskeleton
i. microfilaments

ii. intermediate filaments

iii. microtubules

ORGANELLES

i. mitochondria

ii. ribosomes

iii. endoplasmic reticulum (rough and smooth)

iv. golgi complex

v. lysosomes

vi. peroxisomes (microbodies)

vii. centrosome: two centrioles (diplosomes)

**microtubule triplets *mitotic spindles

kinetochore- polar microtubules

NUCLEUS
a.) Nuclear Membrane: outer, perinuclear space, inner

Create PDF in your applications with the Pdfcrowd HTML to PDF API PDFCROWD
 b.) Nuclear Matrix *chromatin (chromosomes at interphase)

*human genome: chromosomal vs. mitochondrial

i. chomosomes: DNA and histones

ii. homologou/sister chromosomes

iii. centromere

iv. homologous/sister chromatids

v. non-homologous/non-sister chromatids

c.) Nucleolus

CELL DIVISION

Cell Division

Phase Subphase Processes

— Gap 0 (G0) — Gap — Resting Stage — Growth phase; synthesis of amino acids and other necessary
Resting/Quiescent
1 (G1) biochemicals for S phase.

— Synthesis (S) — — DNA replication — Synthesiss of chemicals necessary for microtubules

Interphase
Gap 2 (G2) production.

M Phase/ Dividing
Cytokinesis Cell divides into daughter cells
Stage

Create PDF in your applications with the Pdfcrowd HTML to PDF API PDFCROWD
 MITOSIS

Genetic and chromosome composition of a cell is faithfully reproduced in each daughter cell.
Reproduction for unicellular organisms; growth and replacement for multicellular organisms.
occurs in somatic cells of eukaryotes

CONSEQUENCES OF MITOSIS

Create PDF in your applications with the Pdfcrowd HTML to PDF API PDFCROWD
 1. Product of Mitosis: two daughter celss with the same chromosomal compositions as the parent cell.
2. A different allele may arise only by mutation. Chromosomes may also be visibly altered.
3. Altered genes and chromosomes may replicate their new forms.

SUBSTAGES OF MITOSIS AND ITS KEY EVENTS

Prophase- nuclear membrane begin to disintegrate; nucleoli disappear; DNA begin to supercoil and appear.
Metaphase- centrioles appear on both poles of the cell; spindle fiber appear and attach to kinetochores
(located at the centromere); chromosmes align at the center of the cell.
Anaphase- sister chromatids are pulled towards opposite poles.
Telophase- nuclear membrane reappears; DNA begin to diffuse into the nucleus; nucleoli reappears.

MEIOSIS

special kind of cell division in socially reproducing organisms.

reduction of chromosome number to half of usual number in preparation of the fusion of male and female
gametes during fertilzation.
like mitosis, preceded by interphase.
unlike mitosis, consists of two nuclear divisions in rapid sequence.
Meiosis I: Reduction Division
Prophase I (5 stages)
Metaphase I
Anaphase I
Telophase I
Interkinesis: Transitional Phase
Meiosis II: Equation Division
Prophase II
Metaphase II
Anaphase II

Create PDF in your applications with the Pdfcrowd HTML to PDF API PDFCROWD
 Telophase II
proceeds like mitosis but with only half of chromosome number

STAGES OF MEIOSIS AND ITS DESCRIPTION

Leptotene- almost the same as the prophase stage in mitosis.
Zygotene- pairing of homologous chromosomes synaptinemal complex.
Pachytene- thickening of chromosomes, exhibiting tetrads/bivalents (four chromatids)
Diplotene- longitudinal separation initiates diplonema homologous separate from the centromere toward both
ends except at the chiasmata; later chiasmata move toward the end.
diakinesis- chromosomes are more contracted; nuccleolus disintegrate spindle formation.
CONSEQUENCES OF MEIOSIS

1. Product of Meiosis I: two daughter cells with half the chromosomal composition of the parent cell. They may
have different genetic composition due to intitial differences between the parent cells and due to chiasmata
formation.
2. Because of the reduction division, the conservation of the number of chromosomes from generation to
generation is possible in sexually producing organisms.
3. Product of Meiosis II: each of the four daughter cells contains one representative of each pair chromosomes.
LESSON 2: MENDELLIAN AND NON-MENDELLIAN GENETICS
Mendellian Genetics
proposed by gregor Mendel using his study on pea plants
Possible Reasons Why Mendel's Work Remained Neglected for 35 years:

1. No one really understood it. Knowledge of statistics was necessary for proper understading of the
results. People were not ready to believe that inheritance is statistical in nature.
2. Biologists were preoccupied. Darwin's theory of evolution appeared in 1859, a few years prior to
Mendel's report of his experiments.
3. Relevant details about cell division and chromosomes were not known/not yet discovered.

Create PDF in your applications with the Pdfcrowd HTML to PDF API PDFCROWD
 In 1900s, Mendel's theory is fully understood as three European scientists who are independently
working published their results of their plant breeding experiment and cited Mendel's work.

Mendels's Methodologies:
1. Use of garden peas (Pisum sativum L.) self-pollinated, relatively homozygous, produced high number
of seeds.
2. Focused on a single trait at a ime: shose plant traits with clear-cut differences.
3. Use of true breed (pure breed): grew them for 2 years; chose parental materials.
4. Quantitative approach: classified hybrids and determined frequencies.
5. Formulated theories to explain experimental results.
6. Formulated appropriate experimental tests to validate his theories.

MONOHYBRID CROSS
Mendel selected pure/homozygous variety for a single pair of contrasting characters known as the
parental plants (P generation). (He used PURE tall and PURE dwarf plants)
Cross-pollination of the P-generation. The offspring opulation (hybrid) was call the first filial generation
(F1). (All are tall plants)
F1allowed to self-pollinate, obtaining the second filial generation (F2). (75% tall, 25% short; the
character that disappeared in F1 reappeared in F2)
F2 allowed to self-pollinate, obtaining the third filial generation (F3). (All offspring of dwarf plants were
dwarf; 1/3 tall, 2/3 tall and dwarf plants in a ration of 3:1)
DIHYBRID CROSS

Conducted by Mendel to know how different pair of characters would behave in relation to each other
in their inheritance from a generation tto another.
He chose pure/homozygous variety for a two pairs of contrasting character (P). (Ex. Yellow round and
green wrinkled seeds)
F1: All plants produced yellow round wrinkled seeds.

Create PDF in your applications with the Pdfcrowd HTML to PDF API PDFCROWD
 F1 allowed to self-pollinate, obtaining the F2. (Four types of seeds: yellow round, yellow wrinkled,
green round, green wrinkled in 9:3:3:1 ratio)
The two pairs of contrasting character were transmitted independently to the next generation,
producing new combinations.

MENDEL'S CONCLUSIONS
1. Each inheritable character is determined by factors ("elementen")
2. These factors are transmitted from one generation to the next through gametes.
3. The factor for each character come in pair.
4. AT the time of formatio of gametes, members of the pair of genes separate from each other.
5. In monohybrid cross, onlyone character is expressed in the F1, while both characters are expressed
in F2.
PUNNETT SQUARES

Named after and developed by Reginald Crundall Punnett

A visula representation of Mendelian inheritance: chart or graphic way to show and predict all
possible gene combinations in a cross of parents, whose genes are known.
May be used for monohybrid, dihybrid and even trihybrid crosses.
DOMINANCE AND RECESSIVENESS

Dominance- Takes root from the fundamental concept of one allele of a gene masking the effect of
another allele at the same locus.
Resulting phenotype is affected by what the dominant allele codes for (usually protein which directs
how attributes or processes.
Recessive- usually do not code for any protein when in combination with its dominant counterpart.
Denotation:

capital letters for dominant allele, lower case of the same letter for the recessive one
TEST CROSS:

Create PDF in your applications with the Pdfcrowd HTML to PDF API PDFCROWD
 Developed by Mendel to know whether an organism that expressed a dominant trait is a heterozygote
or homozygote.
the dominant expressing organism is crossed with a homozygote recessive organism for the
same characteristic.
If F1 generation exhibits the dominant trait, then the organism in question is homozygote.
If the F1 generation exhibits a 50% recessive allele, then the organism in question is
heterozygote for the dominant allele.

MENDELIAN LAWS OF INHERITANCE:

1. Law of Uniformity- cross of plants with two contrasting traits do not cause the blending of traits. If
any trait is not expressed in the first generation, it may reappear without change in the subsequent
generation.
2. Law of Segregation- each individual possesses two factors for a particular trait. During gamete
formation, each member of the pair of genes separate from one another so that each gamete carries
only one factor. ; When the factors of a pair separate during gamete formation, they are completely
unaltered. Neither factor has "taken over anything from the other."
3. Law of Independent Assortment- members of different gene pairs assort independently of one
another during gamete formation; therefore, new combination of traits are produced in the offspring.

Create PDF in your applications with the Pdfcrowd HTML to PDF API PDFCROWD