SPECIES

−a group of organisms that share a genetic heritage, are able

to interbreed, and to create offspring
Genetics - the scientific study of heredity −one of the most specific classification that scientists use to
 Human genetics – The study of heredity in man describe animals
 Medical genetics – The study of human genetic
variation of medical significance EVOLUTION
−the process by which organisms change over time
Medical genetics can be further divided into five groups: −has three components:
 Clinical genetics 1. All organisms are descended from a common ancestor
 Genetic counseling 2. There is gradual change over time
 Molecular genetics 3. Natural selection operates upon changes resulting in
 Biochemical genetics emergence of species that have particular abilities to survive
 Cytogenetics in a niche

CYTOGENETICS NATURAL SELECTION

−the branch of genetics that studies the structure of DNA
within the cell nucleus
−study of chromosomes
−involves testing samples of tissue, blood, or bone marrow in
a laboratory to look for chromosomal changes
HEREDITY
−refers to the passing of genetic factors from parents to
offspring or from one generation to the next
−came from the Latin hērēditāt, which means inheritance
CHROMOSOME
−an organized package of DNA found in the nucleus of the
cell
−consist of DNA and protein
−process that results in the adaptation of an organism to its
environment by means of selectively reproducing changes in
its genotype
Concepts of Genetics
TRAIT
−a specific characteristic of an organism
−can be determined by genes or the environment
▷ Genotype - genetic contribution to a trait
▷ Phenotype - outward expression of the genotype
MONOGENIC TRAIT
−a trait produced by the effect of a gene or an allele
−follows Mendelian inheritance

CHROMOSOME NUMBER OF DIFFERENT SPECIES POLYGENIC TRAIT

−one whose phenotype is influenced by more than one gene
−traits that display a continuous distribution
−also influenced by the environment and is called
multifactorial

MENDELIAN TRAIT
−Any trait that can be passed to progeny which follows
Mendelian laws.
−a categoric trait that segregates in accordance with a
single-locus genetic system

GENE
−the basic physical unit of inheritance
−are the instructions to manufacture proteins, which
determine inherited traits
−passed from parents to offspring and contain the
information needed to specify traits
CHROMOSOME
−an organized package of DNA found in the nucleus of the
cell
−the structure housing DNA in a cell
▷ Autosomes - 22 pairs of numbered chromosomes
▷ Sex chromosomes – X and Y chromosome

MUTATION
−a change in a DNA sequence
−result from DNA copying mistakes made:
 during cell division
 exposure to ionizing radiation
 exposure to mutagens
 infection by viruses

GENETICS
−the study of genes and inheritance in living organisms
−the study of inherited traits and their variation

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 GENETIC COMPOSITION:
PHENOTYPE
−an individual's observable traits, such as height, eye color,
and blood type
−“pheno” - observe

ALLELE DOMINANT
−one of two or more versions of a gene −refers to the relationship between two versions of a gene
−people inherit one allele for each autosomal gene from each −allele that will be expressed
parent
RECESSIVE
GENETIC COMPOSITION: −a quality found in the relationship between two versions of
GENOTYPE a gene
−an individual's collection of genes −refers to a type of allele which will not be manifested in an
−is expressed when the information encoded in the genes' individual unless both of the individual's copies of that gene
DNA is used to make protein and RNA molecules have that particular genotype

HOMOZYGOUS CO-DOMINANT
−a genetic condition where an individual inherits the same −a relationship between two versions of a gene
alleles for a particular gene from both parents −neither allele is recessive and the phenotypes of both alleles
−both alleles at a locus are the same are expressed

BIRTH AND PROGRESS OF HUMAN CYTOGENETICS

ALBUCASIS
−Arab physician
−First described hemophilia as a genetic disorder

HETEROZYGOUS
−refers to having inherited different forms of a particular
gene from each parent
−the two alleles at a locus are different

WALTHER
FLEMMING
−Austrian cytologist and professor of anatomy
−published the first illustrations of human chromosomes in
1882
−referred to the stainable portion of the nucleus as
chromatin
−first used the term mitosis

HEINRICH WILHELM GOTTFRIED WALDEYER

−introduced the word chromosome, from the Greek words
for “colored body”
−noted the ability of thread-like structures in the nucleus,
stained by the dye fuchsin
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1600s ADDITIONAL CONTRIBUTIONS IN CYTOGENETICS
 Robert Hooke  Levitsky - formulated the term karyotype to refer to the
 Looks at structure under microscope and calls ordered arrangement of chromosomes
them cells  Tjio and Levan - diplomatically reported that the human
 Anton van Leeuwenhoek diploid chromosome number appeared to be 46
 Improved the compound microscope  Lejeune and colleagues - described an extra
 1st scientist to observe and differentiate rbcs, chromosome from patients with Down syndrome
bacteria and to see sperm in semen  Ford et al. - reported that females with Turner
1859 syndrome have 45 chromosomes
 Charles Darwin  Jacobs and Strong - demonstrated that men with
 English naturalist whose scientific theory of Klinefelter syndrome have 47 chromosomes
evolution by natural selection became the  Murray Barr -discovered X chromatin or the Barr body
foundation of modern evolutionary studies  Nowell and Hungerford - reported the presence of the
 “The Origin of Species by Means of Natural “Philadelphia chromosome” in chronic
Selection” myelogenousleukemia
1866  Lejeune et al. - reported cri du chat (“cat cry”)
 Gregor Mendel syndrome
 the first person to lay the mathematical
foundation of the science of genetics HUMAN CHROMOSOME MORPHOLOGY
1869 A karyotype describes the chromosome complement of an
 Friedrich Miescher individual or species in terms of number, size, and
 Identified the acidic substance found in the cell morphology of its chromosomes.
nuclei of white blood cells, now called DNA  Karyotypes can be based on mitotic or meiotic
1900 chromosomes and are enhanced by
 William Bateson chromosome-banding techniques.
 coined the word genetics
1910
 Thomas Hunt Morgan
 Confirms the chromosome theory of heredity using
studies of eye color of fruit flies
1911
 E.B. Wilson
 Identifies X chromosome as the location for gene
for color blindness
1950
 Erwin Chargoff
 Show that 4 nucleotides are present in DNA

BANDING PATTERN OF CHROMOSOMES

1952 −Chromosome banding allows the identification of
 Martha Chase and Alfred Hershey chromosome deletions, duplications, translocations,
 Uses phages to demonstrate that final proof that inversions, and other less common chromosome
DNA is the element of heredity abnormalities.
1985 −Chromosome ideograms, i.e. diagrams used in identifying
 Kary Mullis chromosomes, are used by cytogeneticists to show the
 Polymerase Chain Reaction relative sizes and the characteristic banding patterns of
1995 chromosomes
 Venter, Fraser and Hamilton Smith
 Publish the first sequence of the free living bacteria
Haemophilus influenzae
1996
 Dolly the sheep was born
 1st ever cloned animal from an adult somatic cell
2001
 CC the cat was born
 1st pet to be cloned

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