PRELIM

MT 205 CYTOGENETICS
LESSON 1 | INTRODUCTION TO CYTOGENETICS
eggwytee | BMLS 2ND YEAR | FIRST SEMESTER |DDC
DEFINITION OF TERMS IN CYTOGENETICS o PROPHASE – chromosome appear compact or condensed
CYTOGENETICS o METAPHASE – align in the center of the cell, after they will
̶ SUTTON: combined the disciplines of cytology (cell) and genetics separate
(genes and heredity) o TELOPHASE – ready to undergo cytoplasmic division
̶ focus on the study of chromosomes (found in the nucleus of the
cell), their behaviors, and abnormalities GENETICS
̶ study of inherited traits and their variations
GOALS:
̶ GREGOR MENDEL – father of genetics
• Diagnosis of chromosomal abnormalities – abnormal chromosome
number or structure  HEREDITY
• Localization of any (often abnormal) chromosomal region/DNA ̶ cause of similarities between individuals
sequence  VARIATIONS
• Genetic counseling ̶ cause of differences between individuals
• research
o MENDELIAN TRAITS
o DNA – Deoxyribonucleic Acid ̶ named after Gregor Mendel
o RNA – Ribonucleic Acid ̶ trait caused predominantly by a single gene
o DOWN SYNDROME ̶ ex. polydactyly
̶ chromosome abnormality o MULTIFACTORIAL TRAITS
̶ known as trisomy ̶ traits that are determined by one or more genes and
̶ have three chromosome 21 environmental factors
̶ ex. hair color (controlled by 3 genes + environmental
influences)

GENES
̶ study of genetics focusses on gene
̶ units of heredity
̶ part of the DNA
*the larger the chromosome the larger the number of gene
 CHROMOSOME 1 – largest chromosomes because it has a
lot of genes
 CHROMOSOME 21 – smallest chromosomes because it has
small amount of genes
o P ARM – short arm of chromosome
o Q ARM – long arm of chromosome o EXONS
o TELOMERE – tip of the chromosome ̶ coding region of the DNA
o CENTROMERE – constriction in the chromosome ̶ involve in making proteins
̶ *the proteins in our body would not be created without
CHROMOSOMES genes
̶ has the sequences that will convert information into protein
̶ made up of DNA and proteins
̶ thread-like structures of cells containing DNA and PROTEINS and o INTRONS
̶ carry inherited traits ̶ non-coding region
̶ carry the organization of the cell life ̶ during protein making the introns are removed
̶ heredity ̶ does not involve in converting proteins
̶ found in the nucleus of the cell
CENTRAL DOGMA

o HISTONE PROTEIN – protein associated with the chromosome

o MATURED RED BLOOD CELLS – does not have chromosomes
because it does not have nucleus
̶ flow of genetic information from DNA to RNA to PROTEINS
HUMAN SOMATIC CELL: 23 pairs of chromosomes
̶ 22 pairs: chromosome 1-22 (autosomes or body chromosome)  REPLICATION – to make more copy of DNA
̶ 1 pair: X and Y chromosome (sex chromosomes)  TRANSCRIPTION – process of transferring information from DNA
*XX (female); XY (male) to RNA
 REVERSE TRANSCRIPTION
̶ baliktad, ma-una si RNA
 ̶ usually found in viruses 5. CELL
̶ particularly in HIV 6. TISSUE (CUBOIDAL EPITHELIUM)
7. ORGAN
 TRANSLATION – process of converting genetic information
8. ORGAN SYSTEM
contained RNA into a protein
9. ORGANISM
10. FAMILY – group of organism
o GENOME
11. COMMUNITY – group of family
̶ complete set of genetic instructions characteristic of an
12. POPULATION – group of community
organism
̶ consist of all information from all 23 pairs of chromosomes
MUTATION
o GENOMICS
̶ study of analyzing and comparing genomes ̶ change in the genes
̶ can have an effect at the whole-person level (causing a disease)
o EXOME ̶ ex. mutation in the CFTR gene causes cystic fibrosis (located in
̶ composed of 20, 325 protein-encoding genes
CHROMOSME 7 Q ARM)
̶ collection of exons

LEVELS OF GENETICS

1. DNA
̶ basic level of genetic
̶ blueprint of life
̶ biochemical that forms genes
2. GENE
̶ segment of DNA
̶ instruct cell to produce a particular protein
̶ alternate form is allele where how many copies are necessary to
affect the phenotype
 DOMINANT ALLELE – has an effect when present in just one
copy or chromosome
 RECESSIVE ALLELE – both chromosomes are present in a pair
to be expressed
 GENOTYPE – genetic makeup of individual
 PHENOTYPE – visible trait; biochemical change or effect in
health that determines your genotype and environment where
it is expressed.
3. CHROMOSOME
̶ continuous molecule of DNA and the proteins associated with it.
4. HUMAN GENOME (23 CHROMOSOME PAIRS)
 KARYOTYPE
̶ used to know if there are chromosomal abnormalities
̶ chart that display chromosome pairs from largest to
smallest
 o 17TH CENTURY
̶ THEORY OF PREFORMATION: sex cells contain a complete
miniature adult (homunculus)
̶ meron na dawn na form sa loob ng semen which is the mini
adult (homunculus)
̶ homunculus – mini adult

o MATTHIAS SCHLEIDEN & THEODOR SCHWANN (1830)

HISTORY OF CYTOGENETICS ̶ proposed the CELL THEORY
̶ CELL THEORY: all living organisms are composed of cells
PREHISTORIC TIME AND THE GREEK INFLUENCE ̶ state also that cell is the basic unit of life
̶ CELL: one of the unifying principles of biology
o BETWEEN 8000 and 1000 BC
̶ domestication and selective breeding of plants and animals o KARL WILHELM VON NÄGELI (1842)
̶ already try to manipulate the gene in plants and animals ̶ 1ST to describe and discover chromosomes (plant cells –
transitory cytoblasts)
o HIPPOCRATES
̶ observed that these transitory cytoblasts are made up of DNA
̶ wrote the book “On the Seed”
and PROTEIN
̶ On the Seed – Hippocratic treatise that active “humors” resided
in various parts of the body o GREGOR JOHANN MENDEL (1856-1863)
 ACTIVE HUMORS – serve as the bearers of hereditary traits ̶ experimented the pea plants which became his basis about his
• DISEASE HUMORS – if your child has abnormality study about inheritance
• HEALTHY HUMORS – if your child is normal ̶ inheritance and theory involving hereditary factors on the germ
cell
o ARISTOTLE
̶ FATHER OF GENETICS
̶ proposed that the generative power of male semen resided in a
pneuma (vital heat) that it contained o EDUARD STRASBURGER (1875)
̶ according to him, males are hotter (temperature) than females ̶ observed cell division and the presence of distinct bodies within
 VITAL HEAT the nucleus (chromosomes)
̶ play an important role in reproduction
o WALTHER FLEMMING (1882)
̶ semen has a vital heat
̶ discoverer of chromosomes mitosis
 younger males – does not have a semen because their
̶ FATHER OF CYTOGENETICS
blood is converted in bones for developing
o HEINRICH WILHEM GOTTFRIED VON WALDEYER HARTZ
1600-1900 (1888)
̶ 1st used a basic dye (methylene blue) to stain chromosomes
o WILLIAM HARVEY (1600s) ̶ coined the term “chromosome”
̶ has a theory called “EPIGENESIS” ̶ chromo (color) and soma (body) = colored bodies
̶ EPIGENESIS – organism is derived from substances present in the (chromosome)
egg that differentiate into adult structures during embryonic
development o AUGUST WEISMANN (1888)
̶ chromosomes found in the sperm and egg cells of the silk moth
fused during fertilization

1900-1970s
o THEODOR BOVERI and WALTER SUTTON (1902)
̶ they proposed chromosome theory of inheritance
̶ chromosome carry the hereditary information, passed to one
generation to the next

o ARCHIBALD GARROD (1902)

̶ he discovered some diseases are inherited
  NEXT-GENERATION SEQUENCING (NGS)
o EDMUND DEECHER WILSON and NETTIE STEVENS (1905)
̶ Genome-wide analysis of chromosomal abnormalities
̶ they identified the sex chromosomes

o WILHEM JOHANNSEN (1909) APPLICATIONS AND IMPORTANCE OF CYTOGENETICS

̶ used the term “gene” to describe the carrier of heredity o CHROMOCOMAL ABNORMALITIES
̶ “genotype” to describe an organism’s genetic makeup
̶ identification and characterization
̶ “phenotype” to describe an organisms outward appearance
̶ ANEUPLOIDY - numerical changes and structural
o HANS VON WINIWARTER (1912) abnormalities
̶ introduced a staining method using ACETO-ORCEIN ̶ helps diagnose genetic disorders: down syndrome, turner
̶ estimated that men have 47 chromosomes and 48 in women syndrome, etc.
̶ abnormal chromosome number
o THEOPHILUS SHICKEL PAINTER (1921)
̶ opposed HANS VON WINIWARTER about the chromosome o CANCER CYTOGENETICS
number ̶ chromosomal alterations and rearrangements that occur in
̶ discovered the Y chromosome in testicular cells from 3 males various types of cancers
̶ 48 chromosomes ̶ ex: Philadelphia chromosome in chronic myeloid leukemia
(CML) – result of translocation in the two chromosomes
o FRANCIS CRICK and JAMES WATSON (1953) (chromosome 29 and 22)
̶ constructed the DNA double helical model ̶ play a significant role when studying the genetic of cancer
̶ they were awarded the NOBLE PRIZE because they construct
̶ TRANSLOCATION – 2 different chromosome that exchange
the model structure of DNA
parts
o ALBERT LEVAN and JOE HIN TJIO (1955-1956) o PRENATAL DIAGNOSIS
̶ correct determination of the human diploid chromosome ̶ karyotyping and FISH helps in detecting abnormalities in
number as 46 developing fetuses
̶ ex: down syndrome
SEX DETERMINATION
• If male the egg should fertilize the sperm that carries the Y o ASSISTED REPRODUCTIVE TECHNOLOGIES (ARTs)
chromosome ̶ preimplantation genetic testing for aneuploidy
• If female, the egg should fertilize the sperm that carries the X ̶ analyzes chromosomal content of embryos
chromosome ̶ kahit cell palang i-tetest na if may chromosomal abnormalities
ba
o JÉRÔME LEJEUNE
̶ 1959: discovered patient with down syndrome had an extra o CYTOGENETIC RESEARCH
copy of chromosome 21 ̶ booming field of science
̶ 1963: 1st described the CRI-DU-CHAT SYNDROME (deletion in ̶ Molecular mechanisms underlying chromosomal abnormalities,
5p) → (chromosome 5 in p arm) gene expression, and genomic stability
̶ CRI-DU-CHAT – cat’s cry ̶ Cure of some diseases
̶ PHARMACOGENETICS – an approach in which it will consult
o ADVANCEMENTS IN BANDING TECHNIQUES (1960s-70s) the DNA information to select drugs that are most likely to
̶ 1960s: TORBJÖ CASPERSSON developed Q-banding work on you
̶ 1970s: G-banding and R-banding.
o EVOLUTIONARY STUDIES
̶ these banding used stains to color chromosomes
̶ important to know if you have deletion in your chromosome ̶ comparison of chromosomal organization and rearrangements
̶ if band doubled meron duplication among different species to gain insights into their evolutionary
relationships and trace the evolution of genomes over time
1980s-PRESENT ̶ cytogenetics play role in evolution study
̶ allow us to know the difference of chromosome among
o 1980s
different species that evolve
 FLUORESCENT IN SITU HYBRIDIZATION (FISH)
̶ independently introduced by THOMAS RIED AND o DNA PROFILING
YOSHINORI WATANABE ̶ comparing of DNA sequences also known as DNA fingerprinting
̶ used to detect small deletions and duplications ̶ purpose: to establish/rule out identity, relationships, or
̶ used the FLUORESCENCE MICROSCOPE ancestry.
 CHROMOSOME MICRODISSECTION ̶ forensic science: collecting of physical evidence of a crime
̶ isolating DNA from any cytogenetically recognizable region ̶ chromosomal analysis – used to confirm biological
of a chromosome relationship
o CONNECTS TO PAST TO PRESENT
o MOLECULAR CYTOGENETICS
̶ determining family relationships.
 COMPARATIVE GENOMIC HYBRIDIZATION (CGH)
̶ establishing geographic origins of specific populations.
̶ Used for identifying gains and losses of a specific
̶ DNA testing can provide views into past epidemics of infectious
chromosomal region with the whole genome
diseases by detecting genes of the pathogens
 SINGLE-NUCLEOTIDE POLYMORPHISM (SNP) ARRAY o GENETIC MODIFICATIONS
BASED KARYOTYPING
̶ genes are manipulated
̶ Genome-wide detection of genetic lesions
Plants with enhanced potential
̶ Check all chromosome for possible presence of
 More vigorous growth and increased yields.
abnormalities
 Resistance to natural predators and pests.
 Production of hybrids and others.
Animals: selective breeding
 purpose: to develop superior breeds of livestock:
(a)produced chickens that grow faster, yield high quality meat,
lay greater numbers of larger eggs; (b) larger animals (pigs,
cows): artificial insemination – used sperm sample from one
single male
 to study endangered and difficult-to-capture animals